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
ARHGEF10_chr8_1818926_1963641	1825135	C C	CCCACCTG others(432): Show CCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACA CCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0007 a0007	a0007c0147 a0007c0147	a0007c0147t0002 a0007c0147t0002	a0007c0147t0002g0004 a0007c0147t0002g0004	1	363	0.0028	439	c.-48 others(456): Show c.-48+1030_-48+1031insTCACCTGCACCCCACCTGTCCCTCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCACCTGT CCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAG CTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGC AATCCACCTGT		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(432): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	280	0.0036	439	c.-14 others(454): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGG		ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG10_chr5_81967023_82261133	82139617	T T	TCCGGGAG others(432): Show TCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTC AGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCA GCCCTCCACCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03471.hp1 HG01884.hp1 HG02055.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0009 a0001c0001t0001g0166 a0001c0001t0001g0167	3	226	0.0133	439	c.217 others(458): Show c.217-24781_217-24780insCGGGAGGGAGATGGGGGGGTCAGCCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCT CCGCCCGGCCAGCCGCCCCGTCAGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGCCGCCCCGTCT GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCACCTCTGCC CGGCCGCCCCTAC		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653897	A A	ATATACGT others(432): Show ATATACGTATATACATATATAAATATATGTTGTATATACGTATATACATA TATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTA TATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATA TATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC ATATATAAATATATGTTGTATATACGTATATACATATATAAATATATGTT GTATATACGTATATACTATATATGTTGTATATACGTATATACAACATAAA TATATGTTGTATATACGTATATACAACATAAATATATGTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18991.hp2 NA18990.hp1 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0027 a0001c0002t0018 a0001c0002t0027	a0001c0002t0018g0161 a0001c0002t0027g0051 a0001c0002t0018g0161 a0001c0002t0027g0051	2	236	0.0085	439	c.676 others(456): Show c.676-4642_676-4641insAACATATATTTATGTTGTATATACGTAT ATACAACATATATTTATGTTGTATATACGTATATACAACATATATAGTAT ATACGTATATACAACATATATTTATATATGTATATACGTATATACAACAT ATATTTATATATGTATATACGTATATACAACATATATTTATGTTGTATAT ACGTATATACAACATATATTTATGTTGTATATACGTATATACAACATATA TTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGT ATATACAACATATATAGTATATACGTATATACAACATATATTTATATATG TATATACGTATATACAACATATATTTATATATGTATATACGTATATACAA CATATATTTATATATGTATATACGTATATACAACATATATTTATATATGT ATATACGTATA		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCCACCTT others(432): Show TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTAC CTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACC TTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCA CCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCCGCCTTCCACCTTC CACCTTCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCC TTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCC TTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0273 a0001c0001t0026g0273	1	394	0.0025	439	c.170 others(458): Show c.170-23281_170-23280insCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTT CGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCC ACCTTCGACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTT CCGCCTTCCGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCGAC CTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTC CACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCCACCTT others(432): Show TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTAC CTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACC TTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCA CCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTTC CACCTTCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCC TTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCC TTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG00741.hp2 others(56): Show HG00597.hp2 HG00738.hp2 HG00741.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02976.hp1 HG03209.hp2 HG03654.hp1 HG03831.hp2 HG03834.hp1 NA18941.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18983.hp1 NA18984.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0010 a0014 a0026	a0001c0001 a0001c0002 a0001c0010 others(8): Show a0001c0001 a0001c0002 a0001c0010 a0001c0039 a0002c0003 a0003c0004 a0004c0005 a0005c0017 a0010c0011 a0014c0021 a0026c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0059 a0001c0001t0069 a0001c0002t0026 a0001c0002t0089 a0001c0010t0002 a0001c0039t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0018 a0002c0003t0071 a0003c0004t0008 a0003c0004t0048 a0004c0005t0003 a0004c0005t0004 a0004c0005t0051 a0005c0017t0002 a0010c0011t0005 a0010c0011t0018 a0014c0021t0001 a0014c0021t0002 a0026c0031t0004	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0164 others(56): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0164 a0001c0001t0001g0242 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0368 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0002g0029 a0001c0001t0004g0176 a0001c0001t0004g0214 a0001c0001t0004g0236 a0001c0001t0007g0017 a0001c0001t0007g0025 a0001c0001t0007g0030 a0001c0001t0007g0120 a0001c0001t0007g0289 a0001c0001t0008g0002 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0011g0218 a0001c0001t0012g0353 a0001c0001t0014g0255 a0001c0001t0015g0224 a0001c0001t0023g0168 a0001c0001t0023g0253 a0001c0001t0024g0055 a0001c0001t0031g0314 a0001c0001t0052g0240 a0001c0001t0054g0019 a0001c0001t0057g0252 a0001c0001t0059g0109 a0001c0001t0069g0339 a0001c0002t0026g0111 a0001c0002t0089g0032 a0001c0010t0002g0018 a0001c0010t0002g0098 a0001c0010t0002g0256 a0001c0039t0002g0319 a0002c0003t0001g0335 a0002c0003t0002g0103 a0002c0003t0004g0250 a0002c0003t0018g0251 a0002c0003t0071g0296 a0003c0004t0008g0310 a0003c0004t0048g0047 a0004c0005t0003g0122 a0004c0005t0003g0124 a0004c0005t0004g0281 a0004c0005t0051g0123 a0005c0017t0002g0259 a0010c0011t0005g0169 a0010c0011t0018g0009 a0010c0011t0018g0165 a0014c0021t0001g0031 a0014c0021t0002g0254 a0026c0031t0004g0066	59	394	0.1498	439	c.170 others(458): Show c.170-23281_170-23280insCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTT CGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCC ACCTTCGACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTT CCGCCTTCTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCGAC CTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTC CACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTC CACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	511884	T T	TCCACCTT others(432): Show TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTAC CTTCCTTCCACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACC TTCCGCCTTCCACCTTCGACCTTCTTCCACCTTCGACCTTCCACCTTCCA CCTTCTTCCACCTTCGAGCTTCCACCTTCCGCCTTCTGCCTTCCACCTTC CACCTTCCTTCCACCTTCCACCTTCGACCTTCCGCCTTCCGCCTTCCGCC TTCCACCTTCTGTCTTCCACCTTCCTTCCACCTTCCGCCTTCCACCTTCC TTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCTTCTACCTTCCACCTTCCACCTTCT TCCACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0083 a0001c0001t0007g0083	1	394	0.0025	439	c.170 others(458): Show c.170-23281_170-23280insCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCCGCCTT CGACCTTCTTCCACCTTCCACCTTCCGCCTTCCACCTTCGACCTTCTTCC ACCTTCGACCTTCCACCTTCCACCTTCTTCCACCTTCGAGCTTCCACCTT CCGCCTTCTGCCTTCCACCTTCCACCTTCCTTCCACCTTCCACCTTCGAC CTTCCGCCTTCCGCCTTCCGCCTTCCACCTTCTGTCTTCCACCTTCCTTC CACCTTCCGCCTTCCACCTTCCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCTTC TACCTTCCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTTCCA CCTTCCACCTTCC		B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr12	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(432): Show AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGGAGGGCGGGACGGAGGGACGGAGGGA GGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGA GGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGG AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGAC GGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGC GGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03688.hp2 HG03654.hp1 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0001 a0002c0002t0001 a0002c0007t0001	a0002c0002t0001g0167 a0002c0007t0001g0135 a0002c0002t0001g0167 a0002c0007t0001g0135	2	410	0.0049	439	c.465 others(454): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCT CCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCC GTCCCGCCC		C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10						chr20	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(432): Show ACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCTTCCGCCCCC ACCCTCCGCCTCTCATCCCTCCACCCCTCGCCCCTCCGCCCCCACCCCTC CGCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCC TCACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCCCACCC CTCCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCTCTCATCCCTCCGC CCCTCACCCCTCCGCCCCCCACCCCTCCGCCCCCCACCCCTCCGCCCCTC ACCCTCCGCCTCTCATCCCTCCGCCCCTCACCCCTCCGCCCCCCACCCCT CCGCCCCCCACCCCTCCGCCCCTCACCCTCCGCCCCTCAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0201 a0001c0012t0002g0201	1	322	0.0031	439	c.326 others(456): Show c.3260+648_3260+649insATGAGGGGCGGAGGGTGAGGGGCGGAGG GGTGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGA GAGGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCG GAGGGGTGAGGGGCGGAGGGATGAGAGGCGGAGGGTGAGGGGCGGAGGGG TGGGGGGCGGAGGGGTGGGGGGCGGAGGGGTGAGGGGCGGAGGGATGAGA GGCGGAGGGTGAGGGGCGGAGGGGTGGGGGGCGGAGGGGTGGGGGGCGGA GGGGTGGGGGCGGAGGGGTGGGGGCGGAGGGGCGAGGGGTGGAGGGATGA GAGGCGGAGGGTGGGGGCGGAAGGTGAGGGGCGCAGGGGTGAGGGGCGGA GGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGG GGGCGGAGGGG		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24						chr7	TogoVar
CCDC77_chr12_396644_447642	421347	A A	ACTTCTGT others(432): Show ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCA CACTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCAT GCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02109.hp2 HG02559.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0326 a0004c0004t0001g0093 a0002c0002t0001g0326 a0004c0004t0001g0093	2	432	0.0046	439	c.413 others(456): Show c.413+2746_413+2747insCACACATAGCAGCACACTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTAC AGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGTG CACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAG CACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAA		CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(432): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0191 a0001c0001t0007g0191	1	256	0.0039	439	c.-45 others(460): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20357972	G G	GTGAGGGG others(432): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGA GGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACAGTGTGAGGGGGAGGTGGTCACAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	236	0.0042	439	c.351 others(458): Show c.3514-2222_3514-2221insCACTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGT GAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTG AGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCACACTGA GGGGAGGTGGTCA		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	AATATATA others(432): Show AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTA ATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTAT ATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTTAATATATTAAAATAAATATTTAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	402	0.0025	439	c.80- others(454): Show c.80-4979_80-4978insATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTA AAATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATA AATATTTAT		CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5						chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(432): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATACAAAT GATATATATGATATATATATGATACAAATGATATATATGATATATATGAT ATATATCAGATATATATATCATATATATCATTTGTATCATATATATATCA TATATATCATATGTATCATATATATCATGTATATATCATATATATCATAT ATATCATATATGTATTCATATATATCATATATATTCATATATAATATATA TTCATATATCATATATATTCATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0069 a0001c0001t0022g0069	1	182	0.0055	439	c.267 others(456): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATACAAATGATATATATGATATATATATGATACAAATGA TATATATGATATATATGATATATATCAGATATATATATCATATATATCAT TTGTATCATATATATATCATATATATCATATGTATCATATATATCATGTA TATATCATATATATCATATATATCATATATGTATTCATATATATCATATA TATTCATATATAATATATATTCATATATCATATATATTCATATATATCAT ATATATTCATATATATATCATATATATTCATATATATCATATATATTCAT ATATATATCAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920973	T T	TATATGAT others(432): Show TATATGATATATATCATATATACATATGATATATACATGATATATATGAT ATATATGATACATATGATATATATGATATATATGATACATATGATATATA TGATATATATATGATACAAATGATATATATGATATATATATGATACAAAT GATATATATGATATATATATGATACAAATGATATATATGATATATATGAT ATATATCAGATATATATATCATATATATCATTTGTATCATATATATATCA TATATATCATATGTATCATATATATCATGTATATATCATATATATCATAT ATATCATATATGTATTCATATATATCATATATATTCATATATAATATATA TTCATATATCATATATATTCATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0115 a0002c0003t0011g0115	1	182	0.0055	439	c.267 others(456): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATATGATACAAATGATATATATGATATATATATGATACAAAT GATATATATGATATATATGATATATATCAGATATATATATCATATATATC ATTTGTATCATATATATATCATATATATCATATGTATCATATATATCATG TATATATCATATATATCATATATATCATATATGTATTCATATATATCATA TATATTCATATATAATATATATTCATATATCATATATATTCATATATATC ATATATATTCATATATATATCATATATATTCATATATATCATATATATTC ATATATATATC		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50						chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098440	A A	AATATATA others(432): Show AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TATAAATATATATAAATATATAATATATATATAAATATATATAAATATGT AAATATATATATAAATATATATAAATATATAAATATATATATAAATATAT AAATATATAAATATATATGTAAATATATAAATATATAAATATATATGTAA ATATATAAATATATATAAATATATATATAAATATATATAAATATATAAAT ATATATAAATACATATGTAAATATATAAATATATATAAATATATAAATAT ATATAGATATATATGTAAATATATATAAATATATATAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	264	0.0038	439	c.181 others(458): Show c.1812+3031_1812+3032insATCTATATATATTTATATATATTTAC ATATATATCTATATATATTTATATATTTATATATATTTATATATTTACAT ATGTATTTATATATATTTATATATTTATATATATTTATATATATATTTAT ATATATTTATATATTTACATATATATTTATATATTTATATATTTACATAT ATATTTATATATTTATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTACATATTTATATATATTTATATATATATTATATATT TATATATATTTATATATATATTTATATATATATTTATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATTTATATA TATTTATATATATATTTATATATTTATATATATTTATATATATTTATATA TATATTTATATAT		COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29						chr6	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(432): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0024 a0024	a0024c0052 a0024c0052	a0024c0052t0049 a0024c0052t0049	a0024c0052t0049g0098 a0024c0052t0049g0098	1	126	0.0079	439	c.416 others(460): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCGTCCTCTCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTC ACATCCCTCTTCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
DCDC2C_chr2_3698575_3853008	3725555	C C	CGGTGGAT others(432): Show CGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGA TCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCGG AGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGC CAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	324	0.0031	439	c.340 others(456): Show c.340-1439_340-1438insTGGAGGGAGACCGCCAGAGTGACGAGGA TGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCA GGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAG TGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGA GGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CAGGTGGATCC		DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(432): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGG TGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGGGGTGAGGGAGTTGGGGG GGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	439	c.-42 others(450): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGGTGGGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGGGG TGAGGGAGTTGGGGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGG		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4177		chr16	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(432): Show GGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGG GGAGAAGAAGGGAGAAGAAGGGAGTGGAGGGGAGGGGAGGGGAGGGGAGG GAGAAGAAGGGAGAAGAAGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGAGGAAGGGAGGGGAAGGGAGGGGAGAG GAGGAGAGAAGGAGAGGGGCGGGCGGAGAGGGGCGGGGCGGAGAGGGGCG GGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCG GAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGAGAGGGGCG GGGCGGGGCGGGGCGGGGCGGGGCGGGGCAGACGGGGAGGGGAGGGGCAG ACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	88	0.0114	439	c.158 others(456): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCGCCCCGCCCCGC CCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCGCCCCGCCCCTCTCCGC CCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGC CCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCGCCCCTCT CCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCTTCTTC TCCCTTCTTCTCCCTCCCCTCCCCTCCCCTCCCCTCCACTCCCTTCTTCT CCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCT CCCCTCCCCTC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(432): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGC ATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCT CCTCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTG CCCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACA TCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTC CCGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCT CGTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	NA19076.hp1 NA19076.hp1	a0042 a0042	a0042c0042 a0042c0042	a0042c0042t0009 a0042c0042t0009	a0042c0042t0009g0086 a0042c0042t0009g0086	1	396	0.0025	439	c.239 others(448): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCAG GAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGA AGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGC CAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(432): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCCCGCATCTTCTCCTCCTG CCCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACA TCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTC CCGCATCTTCTCCTCCTGATCCCATATCTTCTCCTGCTCCTGCATCTTCT CGTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	frameshift_variant frameshift_variant	HIGH	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0100 a0001c0064t0001g0100	1	396	0.0025	439	c.239 others(448): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGATCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGCGGGGGGCCAGGAGGAGAAGATGCGGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAG AAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGC GGGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGC CAG	p.Gly others(5): Show p.Gly800fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPC5_chr13_91393621_92872237	92347855	A A	ATATATAT others(432): Show ATATATATAATATATATAATATATATATTATAATATTATATATATAATAT ATATAATATATTATATATATTATATATATTATATATACTATATATATATT ATATATAATATATATAATATATATAATATATATAATATATATTATATATA TAATATATATATTATATATAATATATATATTATATATAATATATATAATA TATATATTATATATATATATATAATATAAATATATATATTATATATAATA TATATATAGTATATAATATATATATTATATATATTATATATTATATATAA TATATATAATATATAATATATATATTATATATTATATATATATTATATAT AATATATATTATATATAATATATATATTATATATAATATATATATTATAT ATAATATATATTATATATAATATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	42	0.0238	439	c.156 others(462): Show c.1561+202874_1561+202875insATATATATAATATATATATTAT AATATTATATATATAATATATATAATATATTATATATATTATATATATTA TATATACTATATATATATTATATATAATATATATAATATATATAATATAT ATAATATATATTATATATATAATATATATATTATATATAATATATATATT ATATATAATATATATAATATATATATTATATATATATATATAATATAAAT ATATATATTATATATAATATATATATAGTATATAATATATATATTATATA TATTATATATTATATATAATATATATAATATATAATATATATATTATATA TTATATATATATTATATATAATATATATTATATATAATATATATATTATA TATAATATATATATTATATATAATATATATTATATATAATATATATATAA TATATATATTATATATA		GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr13	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(432): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0028 a0005c0005t0002g0028	1	268	0.0037	439	c.-28 others(450): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2351		chr4	TogoVar
GSE1_chr16_85608322_85681200	85653187	G G	GCCCCCCT others(432): Show GCCCCCCTCCGCCCCCCTCCTCCTCCCCCCCCTCCCCCCCCTCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTC CTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	290	0.0035	439	c.427 others(456): Show c.427-1082_427-1081insGCCCCCCTCCTCCTCCCCCCCCTCCCCC CCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCC TCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCC CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTC CTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTC CTCCCCCCTCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	321755	A A	AAAAAAAA others(432): Show AAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTC CCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTT GACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0092 a0003c0004t0001g0092	1	155	0.0065	439	c.-29 others(450): Show c.-2969_-2968insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAAC TCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACC ACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTT TTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					2960		chrX	TogoVar
GTPBP6_chrX_299759_323796	321756	A A	AAAAAAAA others(432): Show AAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAA AAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTC CCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTT GACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG00639.hp2 HG01167.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0006 a0002c0005t0002g0006	2	155	0.0129	439	c.-29 others(450): Show c.-2970_-2969insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTT TTTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					2961		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709791	A A	ATTATATA others(432): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATAGTTATATACACGTATAGAATATATAGT TATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGT TATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGT TATATGTTATATACACGTATAGAATATATAGTTATATATTATATACACGT ATAGAATATATAGTTATATATTATATACACGTATAGAATATATAGTTATA TACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATA TACACGTATAGAATAGTTATATACACGTATAGATATATAGTTATATACAC GTATAGAATATATAGTTATATACACGTATAGAATATATAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0108 a0001c0001t0022g0108	1	256	0.0039	439	c.183 others(458): Show c.1837-1126_1837-1125insCTATATATTCTATACGTGTATATAAC TATATATTCTATACGTGTATATAACTATATATCTATACGTGTATATAACT ATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAACTATAT ATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAATATATA ACTATATATTCTATACGTGTATATAATATATAACTATATATTCTATACGT GTATATAACATATAACTATATATTCTATACGTGTATATAACTATATATTC TATACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTC TATACGTGTATATAACTATATATTCTATACGTGTATATAACTATATTCTA TACGTGTATATAACTATATATTCTATACGTGTATATAACTATATATTCTA TACGTGTATATAA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(432): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATATAGTTATATATTATATACATGTATATAACATA TAGTTATATATTATATACATGTATATAACATATAGTTATATATTATATAC ATGTATATAACATATAGTTATATATTATATACATGTATATAACATATAGT TATATATTATATACATGTATATAACATATAGTTATATATTATATACATGT ATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTATA TATTATATACATGTATATAACATATAGTTATATATTATATACATGTATAT AACATATAGTTATGTATATTATATACATGTATATAACATAGTTATATACA TATAACTATATGTATATAATATATAGTACATGTATATAAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03834.hp2 HG01169.hp1 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0025 a0001c0002t0002 a0001c0006t0025	a0001c0002t0002g0198 a0001c0006t0025g0200 a0001c0002t0002g0198 a0001c0006t0025g0200	2	256	0.0078	439	c.183 others(458): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACAT GTATATAATATATAACTATATGTTATATACATGTATATAATATATAACTA TATGTTATATACATGTATATAATATATAACTATATGTTATATACATGTAT ATAATATATAACTATATGTTATATACATGTATATAATATATAACTATATG TTATATACATGTATATAATATATAACTATATGTTATATACATGTATATAA TATATAACTATAT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(432): Show ATATATTATATTATATATAATATATTTTATATAATATATATTATATTATA TATAATATATATTATATTATATATAATATATTTTATATAATATATAATAT ATATTATATTATATATAATATATTTTATATAATATATAATATATATTATA TTATATATAATATATTTTATATAATATATAATATATATTATATTATATAT AATATATTTTATATAATATATAATATATATTATATTATATATAATATATT TTATATAATATATAATATATATTATATTATATATAATATATTTTATATAA TATATAATATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATTATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 NA19043.hp1 HG02559.hp1 HG02572.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0203	3	314	0.0096	439	c.661 others(456): Show c.661+7230_661+7231insATATATATTATATATAATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATATATTATATAAAATATATTATATATAATATAAT ATATATTATATATTATATAAAATATATTATATATAATATAATATATATTA TATATTATATAAAATATATTATATATAATATAATATATATTATATATTAT ATAAAATATATTATATATAATATAATATATATTATATATTATATAAAATA TATTATATATAATATAATATATATTATATATTATATAAAATATATTATAT ATAATATAATATATATTATATATTATATAAAATATATTATATATAATATA ATATATATTATATATAATATAATATATATTATATAAAATATATTATATAT AATATAATATA		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24						chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33323157	T T	TGTGGAAT others(432): Show TGTGGAATATATATATGGAATATATATGTGGAATATATATATATGGAATA TGTATATATGGAATATATATATATGGAATATGTATACATGGAATATATAC ATGGAATATATATACATGGAATATATATACATGGAATATATATACATGGA ATATATATACATGGAATATATATACATGGAATATATATACATGGAATATA TACATGGAATATATATACATGGAATATATACATGGAATATATACATGGAA TATATATACATGGAATGTATACATGGAATATATATACATGGAATGTATAC ATGGAATATATATATGGAATGTATACATATGGAATATATATATATGGAAT GTATACATATGGAATATATATATGGAATGTATACATATGGAATATATATA TGGAATGTATACATATGGAATATATATATGGAATGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	323	0.0031	439	c.-18 others(450): Show c.-1899_-1898insGTGGAATATATATATGGAATATATATGTGGAATA TATATATATGGAATATGTATATATGGAATATATATATATGGAATATGTAT ACATGGAATATATACATGGAATATATATACATGGAATATATATACATGGA ATATATATACATGGAATATATATACATGGAATATATATACATGGAATATA TATACATGGAATATATACATGGAATATATATACATGGAATATATACATGG AATATATACATGGAATATATATACATGGAATGTATACATGGAATATATAT ACATGGAATGTATACATGGAATATATATATGGAATGTATACATATGGAAT ATATATATATGGAATGTATACATATGGAATATATATATGGAATGTATACA TATGGAATATATATATGGAATGTATACATATGGAATATATATATGGAATG TATAC		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					1812		chr21	TogoVar
INO80_chr15_40973880_41121280	41031555	A A	AAGGGAGG others(432): Show AAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAG GGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGAAAGGGAGGGAGGAAGGGAGGA AGGGAGGAAGGGAGAAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGAAAGGGAGGGAGGAAGGGAGGAAGGG AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGAAAGGGAGGGAGGAAG GGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGG AGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	282	0.0036	439	c.290 others(458): Show c.2908-3820_2908-3819insCCCTTCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTTCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTTCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTT CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTTCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT TTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTTC CTCCCTCCTCCCT		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATACATA others(432): Show TATACATATATAAATATATGAATATATAAAATATATAAATATATAAATAT ATATAAATAAATATATAAATATATACAAATATATAAATAAATATATAAAT ATATAAATATAAATATATATTTATAGATATATAGATTTTACGTTTAAAAT ATATATTTTATAGATTTTATATTTAAAATATATATTTATAGATTTTATAT TTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATATT TTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTTATA TTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTATGTTATATATTATATATTATTATATTATATATATTATA ATATGTATTATATTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA19043.hp2 HG02922.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0332 a0001c0001t0023g0333 a0001c0001t0023g0332 a0001c0001t0023g0333	2	389	0.0051	439	c.-51 others(450): Show c.-5160_-5159insATACATATATAAATATATGAATATATAAAATATA TAAATATATAAATATATATAAATAAATATATAAATATATACAAATATATA AATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGA TTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATAT TTATAGATTTTATATTTAAAATATATATTTATAGATTTTATATTTAAAAA TATATTTTATATATTTTATACATAAAATATAATATATAAAATATATAAAT CATATAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAATATA TTATATGTTATATATTATATATTATTATGTTATATATTATATATTATTAT ATTATATATATTATAATATGTATTATATTATATATTATATAATATAAAAT ATAAA		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					3992		chr8	TogoVar
KCNJ6_chr21_37602373_37921457	37757150	A A	AGCATGAT others(432): Show AGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACAGATTCCAGCCCG GAGTGAGCACTCCCTCACAGTGTGATGATTCCAGCCCGGAGTGAGCTCTC CCTCACAGTGTGATGATTCCAGCCCAGAGTGAGCACTCTCTCACAGTGTG ATGATTCCAGCCCGGAGTGAGCTCTCCCTCACAGCGTGATGATTCCAGCC TGGAGTGAGCACTCCCTCACAGCGTGATGATTCCAGCCTGGAGTGAGCAC TCCCTCACAGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACAGATT CCAGCCCGGAGTGAGCACTCCCTCACAGCATGATGGTTCCAGCCCAAGTG AGCACTCCCTCACAGATTCCAGCCCGGAGTGAGCACTCCCTCACAGTGTG ATGATTCCAGCCCAGAGTGAGCACTCCCTCACAGCGTGAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG03540.hp1 others(1): Show HG01243.hp1 HG02922.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0061 a0001c0001t0084 others(1): Show a0001c0001t0012 a0001c0001t0061 a0001c0001t0084 a0001c0001t0176	a0001c0001t0012g0159 a0001c0001t0061g0172 a0001c0001t0084g0006 others(1): Show a0001c0001t0012g0159 a0001c0001t0061g0172 a0001c0001t0084g0006 a0001c0001t0176g0165	4	198	0.0202	439	c.26- others(456): Show c.26-42020_26-42019insATCACGCTGTGAGGGAGTGCTCACTCTG GGCTGGAATCATCACACTGTGAGGGAGTGCTCACTCCGGGCTGGAATCTG TGAGGGAGTGCTCACTTGGGCTGGAACCATCATGCTGTGAGGGAGTGCTC ACTCCGGGCTGGAATCTGTGAGGGAGTGCTCACTTGGGCTGGAACCATCA TGCTGTGAGGGAGTGCTCACTCCAGGCTGGAATCATCACGCTGTGAGGGA GTGCTCACTCCAGGCTGGAATCATCACGCTGTGAGGGAGAGCTCACTCCG GGCTGGAATCATCACACTGTGAGAGAGTGCTCACTCTGGGCTGGAATCAT CACACTGTGAGGGAGAGCTCACTCCGGGCTGGAATCATCACACTGTGAGG GAGTGCTCACTCCGGGCTGGAATCTGTGAGGGAGTGCTCACTTGGGCTGG AACCATCATGC		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3						chr21	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(432): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATAAAATATATATTATATAAAATATATATAAAATATATAAT ATATAAAATATATATTATATATAAAATATATAATATATATAAAATATATA CTATATATAAAATATATAATATATATAAAATATATACTATATATAAAATA TATACTATATATAAAATATATACTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	260	0.0039	439	c.963 others(458): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATAATATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATAATATATATAA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(432): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATAATA TATAAAATATATATTATATATAAAATATATATTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0150 a0001c0002t0034g0150	1	260	0.0039	439	c.963 others(458): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATAATATATAAAATATATATTATATATAAAATATATATTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA0319_chr6_24539107_24651191	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTGTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0207 a0001c0004t0011g0207	1	300	0.0033	439	c.-33 others(450): Show c.-3352_-3351insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAACAAATTAGCCAGGCG TGGTG		KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding					2791		chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCACGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0026 a0005c0006t0026	a0005c0006t0026g0224 a0005c0006t0026g0224	1	300	0.0033	439	c.-33 others(450): Show c.-3352_-3351insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCGTGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG		KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding					2791		chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0015 a0016 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0004 a0001c0028 others(23): Show a0001c0001 a0001c0004 a0001c0028 a0001c0033 a0002c0002 a0003c0003 a0003c0021 a0004c0005 a0005c0006 a0006c0007 a0007c0011 a0007c0015 a0007c0032 a0008c0010 a0008c0012 a0009c0009 a0010c0014 a0012c0017 a0012c0020 a0015c0027 a0016c0023 a0018c0030 a0019c0026 a0020c0016 a0021c0018 a0022c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(98): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0093 a0001c0004t0004 a0001c0004t0009 a0001c0004t0011 a0001c0004t0019 a0001c0004t0030 a0001c0004t0066 a0001c0004t0068 a0001c0004t0080 a0001c0004t0085 a0001c0028t0005 a0001c0033t0060 a0002c0002t0006 a0002c0002t0013 a0002c0002t0016 a0002c0002t0074 a0003c0003t0004 a0003c0003t0012 a0003c0003t0016 a0003c0003t0031 a0003c0003t0048 a0003c0003t0071 a0003c0021t0004 a0004c0005t0004 a0004c0005t0009 a0004c0005t0011 a0004c0005t0019 a0004c0005t0030 a0004c0005t0051 a0005c0006t0026 a0005c0006t0052 a0005c0006t0079 a0006c0007t0102 a0007c0011t0023 a0007c0011t0034 a0007c0015t0008 a0007c0015t0031 a0007c0032t0008 a0008c0010t0006 a0008c0010t0012 a0008c0012t0001 a0009c0009t0024 a0010c0014t0001 a0012c0017t0078 a0012c0020t0061 a0015c0027t0022 a0016c0023t0050 a0018c0030t0062 a0019c0026t0065 a0020c0016t0055 a0021c0018t0004 a0022c0031t0020	a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0124 others(235): Show a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0199 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0004g0030 a0001c0001t0005g0054 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0005g0065 a0001c0001t0005g0069 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0087 a0001c0001t0005g0090 a0001c0001t0006g0115 a0001c0001t0006g0117 a0001c0001t0006g0119 a0001c0001t0006g0122 a0001c0001t0006g0134 a0001c0001t0006g0140 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0185 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0051 a0001c0001t0007g0059 a0001c0001t0007g0064 a0001c0001t0007g0070 a0001c0001t0007g0073 a0001c0001t0007g0079 a0001c0001t0007g0082 a0001c0001t0007g0088 a0001c0001t0008g0050 a0001c0001t0008g0062 a0001c0001t0008g0067 a0001c0001t0008g0068 a0001c0001t0008g0075 a0001c0001t0008g0078 a0001c0001t0008g0081 a0001c0001t0010g0202 a0001c0001t0010g0213 a0001c0001t0010g0219 a0001c0001t0010g0221 a0001c0001t0010g0229 a0001c0001t0010g0233 a0001c0001t0010g0235 a0001c0001t0010g0236 a0001c0001t0010g0237 a0001c0001t0012g0014 a0001c0001t0012g0035 a0001c0001t0013g0201 a0001c0001t0013g0214 a0001c0001t0013g0218 a0001c0001t0013g0223 a0001c0001t0017g0098 a0001c0001t0017g0099 a0001c0001t0017g0100 a0001c0001t0017g0101 a0001c0001t0017g0102 a0001c0001t0019g0066 a0001c0001t0020g0203 a0001c0001t0020g0222 a0001c0001t0020g0231 a0001c0001t0022g0004 a0001c0001t0022g0006 a0001c0001t0023g0038 a0001c0001t0025g0217 a0001c0001t0025g0228 a0001c0001t0025g0232 a0001c0001t0032g0043 a0001c0001t0032g0044 a0001c0001t0033g0071 a0001c0001t0033g0072 a0001c0001t0034g0110 a0001c0001t0035g0120 a0001c0001t0035g0121 a0001c0001t0036g0241 a0001c0001t0036g0242 a0001c0001t0038g0262 a0001c0001t0038g0263 a0001c0001t0042g0001 a0001c0001t0043g0002 a0001c0001t0045g0009 a0001c0001t0046g0040 a0001c0001t0047g0039 a0001c0001t0049g0025 a0001c0001t0053g0055 a0001c0001t0054g0060 a0001c0001t0056g0089 a0001c0001t0057g0086 a0001c0001t0058g0080 a0001c0001t0059g0077 a0001c0001t0063g0094 a0001c0001t0064g0103 a0001c0001t0067g0105 a0001c0001t0069g0108 a0001c0001t0072g0133 a0001c0001t0073g0190 a0001c0001t0075g0162 a0001c0001t0076g0111 a0001c0001t0077g0179 a0001c0001t0081g0200 a0001c0001t0082g0230 a0001c0001t0083g0215 a0001c0001t0084g0234 a0001c0001t0086g0240 a0001c0001t0093g0261 a0001c0004t0004g0012 a0001c0004t0009g0138 a0001c0004t0009g0139 a0001c0004t0009g0180 a0001c0004t0009g0193 a0001c0004t0009g0195 a0001c0004t0011g0206 a0001c0004t0011g0209 a0001c0004t0011g0211 a0001c0004t0011g0212 a0001c0004t0011g0216 a0001c0004t0019g0074 a0001c0004t0030g0008 a0001c0004t0066g0106 a0001c0004t0068g0107 a0001c0004t0080g0227 a0001c0004t0085g0205 a0001c0028t0005g0083 a0001c0033t0060g0091 a0002c0002t0006g0164 a0002c0002t0013g0220 a0002c0002t0013g0238 a0002c0002t0013g0239 a0002c0002t0016g0020 a0002c0002t0016g0024 a0002c0002t0074g0160 a0003c0003t0004g0019 a0003c0003t0004g0021 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0012g0018 a0003c0003t0012g0034 a0003c0003t0012g0036 a0003c0003t0016g0028 a0003c0003t0016g0029 a0003c0003t0016g0031 a0003c0003t0016g0032 a0003c0003t0031g0037 a0003c0003t0048g0013 a0003c0003t0071g0118 a0003c0021t0004g0033 a0004c0005t0004g0042 a0004c0005t0009g0169 a0004c0005t0009g0175 a0004c0005t0009g0186 a0004c0005t0011g0208 a0004c0005t0011g0210 a0004c0005t0019g0053 a0004c0005t0019g0056 a0004c0005t0030g0007 a0004c0005t0051g0046 a0005c0006t0026g0225 a0005c0006t0026g0226 a0005c0006t0052g0047 a0005c0006t0079g0130 a0006c0007t0102g0300 a0007c0011t0023g0016 a0007c0011t0023g0017 a0007c0011t0034g0143 a0007c0015t0008g0057 a0007c0015t0031g0041 a0007c0032t0008g0076 a0008c0010t0006g0131 a0008c0010t0012g0011 a0008c0012t0001g0129 a0009c0009t0024g0095 a0009c0009t0024g0096 a0009c0009t0024g0097 a0010c0014t0001g0196 a0010c0014t0001g0198 a0012c0017t0078g0148 a0012c0020t0061g0092 a0015c0027t0022g0005 a0016c0023t0050g0045 a0018c0030t0062g0093 a0019c0026t0065g0104 a0020c0016t0055g0052 a0021c0018t0004g0015 a0022c0031t0020g0204	238	300	0.7933	439	c.-33 others(450): Show c.-3352_-3351insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG		KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding					2791		chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTAATGGC AAGATGACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0012 a0008c0010t0012	a0008c0010t0012g0010 a0008c0010t0012g0010	1	300	0.0033	439	c.-33 others(450): Show c.-3352_-3351insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT CATCTTGCCATTACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG		KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding					2791		chr6	TogoVar
KIAA0319_chr6_24539107_24651191	24648981	T T	TCACCACG others(432): Show TCACCACGCCTGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCA CCATGTTGATCAGGCTGGTCTCTAACTCCTGACCTCGTGATCCGCCTGTC TTGGCCTCACAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCC TAAAAGTGGTTTGTTTCTATACACTTCATTTATAATTTTTTAGATTTTGT CATACGCAGTATACAAGAAGGTATTTCATGTAGATGCTGTGACTTATATA AAGGAAATGAAACGTCCATGGTTTTAAAACAATTTGACAATTATTTATTT ATTTTTGAGACAGAGTTTCACTCTTCTCGCCCAGGCTGGAGTGTGATGGC AAGATCACGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCC TGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02148.hp1 NA20300.hp2 HG01928.hp1 HG02148.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0009 a0001c0001t0001 a0006c0007t0009	a0001c0001t0001g0188 a0001c0001t0001g0189 a0006c0007t0009g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0006c0007t0009g0187	3	300	0.0100	439	c.-33 others(450): Show c.-3352_-3351insGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCT GAAGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGT GATCTTGCCATCACACTCCAGCCTGGGCGAGAAGAGTGAAACTCTGTCTC AAAAATAAATAAATAATTGTCAAATTGTTTTAAAACCATGGACGTTTCAT TTCCTTTATATAAGTCACAGCATCTACATGAAATACCTTCTTGTATACTG CGTATGACAAAATCTAAAAAATTATAAATGAAGTGTATAGAAACAAACCA CTTTTAGGCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGTGA GGCCAAGACAGGCGGATCACGAGGTCAGGAGTTAGAGACCAGCCTGATCA ACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAAATTAGCCAGGCG TGGTG		KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding					2791		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997382	G G	GGGGGCGG others(432): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG GGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GTGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGG CGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGG TGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGT GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0009 a0003c0004t0005g0009	1	375	0.0027	439	c.-20 others(450): Show c.-2087_-2086insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGGTGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATC TGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCT GCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					288		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997496	A A	ATCTGCAG others(432): Show ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAG AGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0330 a0003c0004t0005g0330	1	375	0.0027	439	c.-19 others(450): Show c.-1973_-1972insTCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGG CGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGG GGGAG		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					174		chr6	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(432): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGGAAGGAGAGGGAGGAGGGGGAGGG GGAGAGGGAGAGAGGGAGGAGGAGGAAAGAGGAGAAGAGGCAGTGGAAGA TGAAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAAGAAGATGAATAAGAG GAGGAGGAGAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGG GGAGGAGGGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGG AGGAGGAAGAGGAGGAGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	316	0.0032	439	c.583 others(454): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCTCCTCC TCTTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCC CCCCTCCTCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTT TCTCCTCCTCCTCTTATTCATCTTCTTTTTCCTCCTCCTCCTTCTTCCTC TTCCTCTTCATCTTCCACTGCCTCTTCTCCTCTTTCCTCCTCCTCCCTCT CTCCCTCTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCCTCCTCCCCCCTC CTTCTTCCTCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCT CCTCCATCTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCT CTTCCCTCTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTC TTTTCTCTC		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
LSS_chr21_46183446_46233774	46184673	A A	ACCCAGTG others(432): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCA CCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGAGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGCAC CCACCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAT GGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGACGGGCACCCACCACCACCATCCCAGTGGGCCGGCCACACCTCCAG CCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGATGGGCACCCACCACCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0045 a0001c0006t0011g0045	1	358	0.0028	439	c.64 others(450): Show c.6430_*6431insATGGTGGTGGTGGTGGGTGCCCATCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGA GTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGATGGTGGTGG TGGTGGGTGCCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCTCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCA CTGGG		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding					3772		chr21	TogoVar
MAD1L1_chr7_1810795_2237945	1929810	A A	ACTGCCAC others(432): Show ACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCATCCCGT CCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCACCCCATCCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCACCCCGTCCCCACT GCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCC GTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCG CCCCATCCCCCACTGCCACGTCCCCCTCGCCCCGTCCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	264	0.0038	439	c.180 others(458): Show c.1807+6876_1807+6877insCGGGGACGGGGCGAGGGGGACGTGGC AGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGAC GTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTG GGTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGG CGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGCGGGGAC GGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGTGAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGA CGTGGCAGTGGGGGACGGGATGAGGGGACGTGGCAGTGTGGACGTGGTGG TGGGTTGTGGCAG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAML2_chr11_95971598_96348195	96127141	A A	ATGTGGTT others(432): Show ATGTGGTTTCTCTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01192.hp1 HG01952.hp1 HG01167.hp2 HG01192.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0018 a0001c0001t0005 a0001c0002t0018	a0001c0001t0005g0034 a0001c0002t0018g0032 a0001c0002t0018g0033 a0001c0001t0005g0034 a0001c0002t0018g0032 a0001c0002t0018g0033	3	230	0.0130	439	c.514 others(458): Show c.514-33625_514-33624insAACCAACCCAAATGTCCAACAATGAT AGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAG CCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTG GAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCG CATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACA GGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGG GAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGG TGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAA TGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAA AAGAGAAACCACA		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAN1A2_chr1_117362449_117533872	117429829	C C	CGGAGGGG others(432): Show CGGAGGGGGCGGCTGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGACCCC CCCATCTCCCTCCCGGACGGGGTAGCTGGCCGGGCTGAGGGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCCGGGGGCCGACACCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0015 a0001c0001t0044g0015	1	370	0.0027	439	c.855 others(456): Show c.855+9198_855+9199insACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTAGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCCGGGGGCCGACACCCCCACCTCCCTCCTGGAGGGG GCGGCTGGCCG		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1A2_chr1_117362449_117533872	117429829	C C	CGGAGGGG others(432): Show CGGAGGGGGCGGCTGGCCGACCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGACCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGACCCC CCCATCTCCCTCCCGGACGGGGTAGCTGGCCGGGCTGAGGGGCTCCTCAC TTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01255.hp2 others(8): Show HG00741.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG02647.hp2 HG03195.hp1 HG03471.hp1 HG03927.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0006 a0001c0001 a0001c0009 a0002c0006	a0001c0001t0016 a0001c0001t0043 a0001c0001t0081 others(5): Show a0001c0001t0016 a0001c0001t0043 a0001c0001t0081 a0001c0001t0098 a0001c0001t0100 a0001c0001t0141 a0001c0009t0044 a0002c0006t0099	a0001c0001t0016g0012 a0001c0001t0016g0016 a0001c0001t0016g0017 others(8): Show a0001c0001t0016g0012 a0001c0001t0016g0016 a0001c0001t0016g0017 a0001c0001t0016g0022 a0001c0001t0043g0018 a0001c0001t0081g0011 a0001c0001t0098g0020 a0001c0001t0100g0014 a0001c0001t0141g0021 a0001c0009t0044g0009 a0002c0006t0099g0013	11	370	0.0297	439	c.855 others(456): Show c.855+9198_855+9199insACCCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTAGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCTGGAGGGG GCGGCTGGCCG		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(432): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG02027.hp1 others(2): Show HG00642.hp2 HG00738.hp1 HG02027.hp1 HG02132.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	5	390	0.0128	439	c.112 others(456): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT ATATATATATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar

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