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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANO9_chr11_412938_447011	431309	T T	TGGGGGCT others(442): Show TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGGCGT CTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGC TCCCGCGGGTATCTGGGGGGCGTCTGCGGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGGGCGTCTGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTG CAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTG GGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCG TGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	286	0.0035	449	c.539 others(464): Show c.539+384_539+385insCAGATACCCGCGGACGCCCCCACACCCCCG CGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCC CAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCC GCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCCGCAGACG CCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCCCGCGGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCGCAGACGCCCCCCAGATACCCGCGGGAGCCCCCA CACCCCCGCGGAAGCCCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARGFX_chr3_121562949_121595622	121588358	A A	ATCCCAGC others(442): Show ATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTGGGAG GTGGAGGTTGCAGTGAGCTGAGGTCGCACCACTGCACTCCAGCCTGGACA ACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAAAATAAAAAATAAAAA ATAAAAGAAACATAAGATAAGTACCTCTCAATGAAAAATGTAAAAGTACC TAGAAATTCACAAAAAAATTAATACCTCTGTGGAGAAAACTTCAAAACTT AAAAAAGGACATAGAAAATGTTTTGAATAGGCCAGGCGCAGTGGCTCACA CCTGTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCA AGAGATCAAGACCATCCTGGCCAACATGGTGAAATCCTGCCTCTACTAAA AATACAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACACACCTGTAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02451.hp1 others(9): Show HG01109.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02818.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03540.hp1 NA18948.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0023 others(9): Show a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0023 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0242 a0001c0001t0007g0246 a0001c0001t0007g0252 a0001c0001t0007g0274 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0287	12	410	0.0293	449	c.17 others(460): Show c.1770_*2218dupCGGGAGGCTGAGGAAGGAGAATTGCTTGAACCTG GGAGGTGGAGGTTGCAGTGAGCTGAGGTCGCACCACTGCACTCCAGCCTG GACAACAGAGCAAGACTCTGTCTCAAAAAAAAAATAAAAAATAAAAAATA AAAAATAAAAGAAACATAAGATAAGTACCTCTCAATGAAAAATGTAAAAG TACCTAGAAATTCACAAAAAAATTAATACCTCTGTGGAGAAAACTTCAAA ACTTAAAAAAGGACATAGAAAATGTTTTGAATAGGCCAGGCGCAGTGGCT CACACCTGTAATCCCAGCACGTTGGGAGGCCAAGGCGGGCAGATCACGAG GTCAAGAGATCAAGACCATCCTGGCCAACATGGTGAAATCCTGCCTCTAC TAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGCACACACCT GTAGTCCCAGCTACT	ARGFX	ENSG00000186103.5	transcript	ENST00000334384.5	protein_coding	5/5	2219	INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP11A_chr13_112685038_112892168	112714007	C C	CCTCCCAC others(442): Show CCTCCCACCCCTGATCCCAGCCTCCCTTCCATTCTTCCCACCCCAGATCC CACGCCTCCCTTCCCACCCAGCTTCCATTCCTGGCCCCAGTCTCCCTTCC ACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCGACCCCTG ATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAACCTCCCTTC CGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCCACCCCT GATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTCCCTT CCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCCACTC CCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACCCCTGATGC CATGCCTCCCTTCCACTCCCCCCACCCCTGGTCCCAGCCTCCCTTCCACT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18906.hp2 HG02451.hp1 NA18906.hp2	a0001 a0001	a0001c0009 a0001c0022 a0001c0009 a0001c0022	a0001c0009t0003 a0001c0022t0001 a0001c0009t0003 a0001c0022t0001	a0001c0009t0003g0218 a0001c0022t0001g0217 a0001c0009t0003g0218 a0001c0022t0001g0217	2	254	0.0079	449	c.39+ others(466): Show c.39+23553_39+23554insTCCCACCCCTGATCCCAGCCTCCCTTCC ATTCTTCCCACCCCAGATCCCACGCCTCCCTTCCCACCCAGCTTCCATTC CTGGCCCCAGTCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCC TTTCACTCCCCCGACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTC ACTCCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCCCTG GTCCCAGCCTCCCTTCCACTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714007	C C	CCTCCCAC others(442): Show CCTCCCACCCCTGATCCCAGCCTCCCTTCCATTCTTCCCACCCCAGATCC CACGCCTCCCTTCCCACCCAGCTTCCATTCCTGGCCCCAGTCTCCCTTCC ACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCGACCCCTG ATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAACCTCCCTTC CGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCCACCCCT GATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTCCCTT CCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTCCACTC CCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACCCCTGATGC CATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCCACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 HG02809.hp1 others(7): Show HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03453.hp2 HG03486.hp1 HG06807.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0029	a0001c0001t0002 a0001c0004t0003 a0001c0004t0042 others(2): Show a0001c0001t0002 a0001c0004t0003 a0001c0004t0042 a0001c0006t0004 a0001c0029t0051	a0001c0001t0002g0050 a0001c0004t0003g0034 a0001c0004t0003g0049 others(7): Show a0001c0001t0002g0050 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0079 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0042g0057 a0001c0006t0004g0036 a0001c0006t0004g0114 a0001c0029t0051g0046	10	254	0.0394	449	c.39+ others(466): Show c.39+23553_39+23554insTCCCACCCCTGATCCCAGCCTCCCTTCC ATTCTTCCCACCCCAGATCCCACGCCTCCCTTCCCACCCAGCTTCCATTC CTGGCCCCAGTCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCC TTTCACTCCCCCGACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTC ACTCCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTG GTCCCAGCCTCCCTTCCACTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(442): Show ATATATATATATATATATATATATATATAGTTTATATATATATAGTTTAT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATACTATATATATAGTATATATATATACTATATATATAGTATAT ATATATACTATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATATATACTATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATAAACTATATATA TAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ACTATATATAGTTTATATATATATACTATATATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0273 a0001c0004t0006g0273	1	304	0.0033	449	c.331 others(468): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATAT ATATACTATATATAGTATATATATATATAAACTATATATATAGTATATAT ATATAAACTATATATAGTATATATATATACTATATATATAGTATATATAT ATACTATATATATAGTATATATATATACTATATATATAGTTTATATATAT ACTATATATATAGTTTATATATATATAAACTATATATATATAAACTATAT ATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(442): Show ATATATATATATATATATATATATATATAGTTTATATATATATAGTTTAT ATATATATAAACTATATATATAGTATATATATATACTATATATATAGTAT ATATATATACTATATATATAGTATATATATATACTATATATATAGTATAT ATATATACTATATATAGTTTATATATATATACTATATATATAGTTTATAT ATATATATACTATATATAGTATATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATAAACTATATATA TAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ACTATATATAGTTTATATATATATACTATATATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0274 a0001c0001t0025g0274	1	304	0.0033	449	c.331 others(468): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATAT ATATACTATATATAGTATATATATATATAAACTATATATATAGTATATAT ATATAAACTATATATAGTATATATATATACTATATATATAGTATATATAT ATACTATATATATAGTATATATATATACTATATATATAGTATATATATAT ACTATATATATAGTTTATATATATATAAACTATATATATATAAACTATAT ATATATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
C1QTNF12_chr1_1237453_1251722	1245158	C C	CCTCTGCC others(442): Show CCTCTGCCCTCCTCCCCCTTCCCCTCCTCCCCCCACTCCTCTCCCCTCTT CCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCCCCACTCCTCTCCCC TCCTCTCCCACTCCTCCCCCTCCTCCCCACTCCTCCCCCCACTGCTCTCC CCTCTTCCCCCCACTCCTCCCCACTCCTCTCCCTCCTTCTCCACTCCTCT CCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCCTCCCCCTCTTCCCCCT CCTCCCCCACTCCTCATCTCCCTCCTCCCCACTCCTCTCCCCTCTTCCCC CCACTCCCCCCCACTCCTCCCCCACTCCTCTCCCCTCTTGCCCCCACTCC TCCCCCACTCCTTCCCACTCCTCTCCTCTCTTCCCCCCACTCCTCCCCCC ACTCCTCTCCCTCCTCCCCCACTCCTCTCCCCTCCCTCCCCCACTCCTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	328	0.0031	449	c.178 others(464): Show c.178-662_178-661insAGAGGAGTGGGGGAGGGAGGGGAGAGGAGT GGGGGAGGAGGGAGAGGAGTGGGGGGAGGAGTGGGGGGAAGAGAGGAGAG GAGTGGGAAGGAGTGGGGGAGGAGTGGGGGCAAGAGGGGAGAGGAGTGGG GGAGGAGTGGGGGGGAGTGGGGGGAAGAGGGGAGAGGAGTGGGGAGGAGG GAGATGAGGAGTGGGGGAGGAGGGGGAAGAGGGGGAGGAGGGGACAGGAG TGGGGGAGGAGTGGGAGGGGAGAGGAGTGGAGAAGGAGGGAGAGGAGTGG GGAGGAGTGGGGGGAAGAGGGGAGAGCAGTGGGGGGAGGAGTGGGGAGGA GGGGGAGGAGTGGGAGAGGAGGGGAGAGGAGTGGGGGAGGAGGGAGATGA GTAGGGGAAGGAGTCGGGGGAAGAGGGGAGAGGAGTGGGGGGAGGAGGGG AAGGGGGAGGAGGGCAGAG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(442): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATATATAATTATATATATTATATAATTTTATATA TATAATTATATATATTATATAATTATATATATAATTTTATATATATATAA TTATATATACAATTTTATAATATATATAATTATATATACAATTATATATA TATATAATTATATATATATAATTGTATATATAATTTTATATATATAATTA TATATAATTTTATATATATATAATTATATATATAATTATATATATATAAT TATATATATTTATATATATATAATTATATATATAATTTTATATATATAAT TTTATATAATTTTATATATAATTATATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG03139.hp2 others(2): Show HG02965.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 NA20129.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0016 a0004c0005t0001g0020 a0004c0005t0001g0021 others(2): Show a0004c0005t0001g0016 a0004c0005t0001g0020 a0004c0005t0001g0021 a0004c0005t0001g0296 a0004c0005t0001g0308	5	330	0.0152	449	c.907 others(464): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATAAATATATATAATTATATATATATAATTATATATATAATTA TATATATATAAAATTATATATAATTATATATATAAAATTATATATACAAT TATATATATATAATTATATATATATATAATTGTATATATAATTATATATA TTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAATT ATATAATATATATAATTATATATATAAAATTATATAATATATATAATTAT ATATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATAATTAT ATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(442): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCGCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	256	0.0039	449	c.-45 others(470): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCGCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20320485	A A	ATTATATA others(442): Show ATTATATATTATATATGTAATATATATTATATATTATATATAATATATAA TATATGTAATATATAATATATATTATATATGTAATATATAATATATATTA TATATGTAATATATAATATATATTATATATGTAATATATATTACATATAT AATATATATGTAATATATATAATATATATGTAATATATATTACATATATA ATATATATTACATATATAATATATATAATATATATTACATATATTATATA TGTAATATATATTACATATATTATATATGTAATATATATTATATATATTA TATGTAATATATATTATATATATTATATATGTAATATATGTAATATATGT AATATATATTATATATATTATATATGTAATATATATTATATATATTATAT ATGTAATATATATTATATATATTATATATGTAATATATATTATATATATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0176 a0001c0024t0008g0176	1	236	0.0042	449	c.342 others(470): Show c.3423-21346_3423-21345insTTATATATTATATATGTAATATAT ATTATATATTATATATAATATATAATATATGTAATATATAATATATATTA TATATGTAATATATAATATATATTATATATGTAATATATAATATATATTA TATATGTAATATATATTACATATATAATATATATGTAATATATATAATAT ATATGTAATATATATTACATATATAATATATATTACATATATAATATATA TAATATATATTACATATATTATATATGTAATATATATTACATATATTATA TATGTAATATATATTATATATATTATATGTAATATATATTATATATATTA TATATGTAATATATGTAATATATGTAATATATATTATATATATTATATAT GTAATATATATTATATATATTATATATGTAATATATATTATATATATTAT ATATGTAATATATATTATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(442): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG02145.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0012 a0001c0001t0001 a0001c0002t0012	a0001c0001t0001g0142 a0001c0002t0012g0109 a0001c0001t0001g0142 a0001c0002t0012g0109	2	292	0.0069	449	c.106 others(468): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89588101	C C	CACCCGCG others(442): Show CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGAAACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCCGTGTTACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTTA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCA CCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTTACCCGCGTGTTAC CCACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	348	0.0029	449	c.928 others(464): Show c.928-570_928-569insGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCGCGTGT CACCCACAGAAACACGGCCCCCCGTGTTACCCGCGTGTTACCCACAGATA CACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTTACCCGCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAAC ACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTG TTACCCGCGTGTTACCCACAGAAACACGGCCCCCGTGTTACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCG TGTTACCCGCGTGTTACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597939	C C	CCCCGCCC others(442): Show CCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCAC CCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCC GCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCAT CCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCC ATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCAT CCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCC ATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCGCCCACCCATCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	348	0.0029	449	c.13 others(460): Show c.1318_*1319insCCCGCCCACCCATCCGTCCACCCATCCCCCCGCC CACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTG TCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACC CACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCA TCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC CGCCCACCCATCCGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		694		chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647220	A A	ACAATCCT others(442): Show ACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCT CCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACA CCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCT CCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATCCTCC TCCAACCCCTCCTCCAAAGCCCTCCTTCTCCTCCACACCCCTCCAAATTC CACAGCCCTCCTCCACCTCTACACCCACTGCTCCTCCACAATCCTCCTCC ACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCT CCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACA ATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	276	0.0036	449	c.50 others(460): Show c.5080_*5081insCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCT CAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCT CCTCACCCATCCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCTCCTCCA CACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTGCTCCT CCACAATCCTCCTCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACAC CCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTC CACACCCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1876		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(442): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0023 a0005c0065t0023	a0005c0065t0023g0050 a0005c0065t0023g0050	1	126	0.0079	449	c.416 others(470): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CGTCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC TCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCA CATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(442): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGAGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0006 a0001c0026t0006	a0001c0026t0006g0093 a0001c0026t0006g0093	1	126	0.0079	449	c.416 others(470): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC TCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCA CATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(442): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATTT ATATATTATATGTATATTATGTATACATAATATATTATATATTATATGTA TATTATGTATACATAATATTTATATATTATATGTATATTATGTATACATA ATATTTATATATTATATGTATATTATGTATACATAATATATTATATATTA TATGTATATTATGTATACATAATATATTATATATTATATGTATATTATGT ATACATAATATTTATATATTATATGTATATTATGTATACATAATATTTAT ATATTATATGTATATTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	344	0.0029	449	c.896 others(466): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAAATATTATGTATACATAATATACAT ATAATATATAAATATTATGTATACATAATATACATATAATATATAATATA TTATGTATACATAATATACATATAATATATAATATATTATGTATACATAA TATACATATAATATATAAATATTATGTATACATAATATACATATAATATA TAAATATTATGTATACATAATATACATATAATATATAATATATTATGTAT ACATAATATACATATAATATATAAATATTATGTATACATAATATACATAT AATATATAATATATTATGTATACATAATATACATATAATATATAATATAT TATGTATACATAATATACATATAATATATAATATATTATGTATACATAAT ATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
D2HGDH_chr2_241729630_241773811	241766451	A A	AGAAGTTG others(442): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGTGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGA GAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGA GAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGGA GAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGA GAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGA GAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0329 a0003c0003t0010g0329	1	412	0.0024	449	c.130 others(468): Show c.1307-1256_1307-1255insGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGTGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGTGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766455	C C	CTTGGGGA others(442): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCGGGCTGAGGGAGTAGGAAGAGGTGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0328 a0003c0003t0010g0328	1	412	0.0024	449	c.130 others(468): Show c.1307-1187_1307-1186insGGGCTGAGGGAGTAGGAAGAGGTGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251007	A A	ACCCCCAC others(442): Show ACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCACACCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCACACCCCC ACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCC CCACACACCCCCCACACCACACATCCCCCACACCCCCCACACCACACATC CCCCTCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCT CACACCCCCCACATCCCCCACACACCCCCCACACCACACATCCCCCTCAC ACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCCCACACCCC CCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCACAT CCCCCACACACCCCCCACACCACACATCCCCCTCACACCCCCCAACACCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0019 a0004c0005t0019	a0004c0005t0019g0114 a0004c0005t0019g0114	1	116	0.0086	449	c.207 others(468): Show c.2073+1325_2073+1326insCCCACACACCCCCCACACCACACATC CCCCACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCACACATCCCCCTCACACCCCCCAACACCCCCACACA CCCCCCACACCACACATCCCTCACACCCCCCACATCCCCCACACACCCCC CACACCACACATCCCCCTCACACCCCCCAACACCCCCACACACCCCCCAC ACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCACATCCCCCACACACCCCCCACACCACACATCC CCCTCACACCCCCCAACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251146	C C	CCCACACA others(442): Show CCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCC CCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCCA CATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACAC CCCCACACATCCCCCACATCCCCCACACCCCTCACATCCCCCACACCCCC ACACATCCCCCACACCCCCACACATCCCCCACATCCCCCACATCCCCCAC ACCCCCCACATCCCCCCACACCCCCACATCCCCCACACCCCCCACATCCC CCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACA TCCCCCCACACCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCC CACATCCCCCCACACCCCCACATCCCCCACACCCCCCACACCCCCACACA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0053 a0002c0002t0004g0053	1	116	0.0086	449	c.207 others(468): Show c.2073+1464_2073+1465insACACATCCCCCACACCCCCACACATC CCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCC ACACATCCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCAC ACCCCCACACATCCCCCACACCCCCACACATCCCCCACATCCCCCACACC CCTCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCC CACATCCCCCACATCCCCCACACCCCCCACATCCCCCCACACCCCCACAT CCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCC ACATCCCCCACACCCCCCACATCCCCCCACACCCCCACATCCCCCACACC CCCCACATCCCCCACACCCCCCACATCCCCCCACACCCCCACATCCCCCA CACCCCCCACACCCCCACACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DGKB_chr7_14140049_14907751	14211597	T T	TTTTACTC others(442): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGAT TTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTT TGTGATATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	148	0.0068	449	c.212 others(470): Show c.2123-33447_2123-33446insTATCACAAAACATGAGAGTAAAAT CACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGA GTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAG TAAATATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAAATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAAC ATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAACATGAGAG TAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DLGAP2_chr8_732628_1713476	929102	C C	CGCCATTC others(442): Show CGCCATTCCCCCTCTAAACATCCCAGACCCCCTGCCATTCCCCATCTAAA CCTCCCAGACCCCCTGCCATTCCCCCTCTAAACCTCCCAGACCCCCTGCC ATTCCCCCTCTAAACATCCCACACCCCCTGCCATTCCCCCTCTAAACATC CCACACCCCGCCGCCATTCCCCCTGTAAACATCCACACCCCCCGCCATTC CCCCTCTAAATATCCAGACCCCCCGCCATTCCCCCTCTAAACATCCCAGA CCCCCCCGCCATTCCCCCTCCAAACATCCCAGACCCCCCGCCATTCCCCC TCTAAACTCCCACACCCACCTGCCATTCCCCCTCTAAATATCCAGACCCC CCGCCATTCCCCCTCTAAACATCCCAGACCCCTCCGCCATTCCCCCTCCA AACATCCCAGACCCCCTGCCATTCCCACTCTAAACATCCCACACACCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	449	c.73+ others(466): Show c.73+21160_73+21161insGACCCCCTGCCATTCCCCATCTAAACCT CCCAGACCCCCTGCCATTCCCCCTCTAAACCTCCCAGACCCCCTGCCATT CCCCCTCTAAACATCCCACACCCCCTGCCATTCCCCCTCTAAACATCCCA CACCCCGCCGCCATTCCCCCTGTAAACATCCACACCCCCCGCCATTCCCC CTCTAAATATCCAGACCCCCCGCCATTCCCCCTCTAAACATCCCAGACCC CCCCGCCATTCCCCCTCCAAACATCCCAGACCCCCCGCCATTCCCCCTCT AAACTCCCACACCCACCTGCCATTCCCCCTCTAAATATCCAGACCCCCCG CCATTCCCCCTCTAAACATCCCAGACCCCTCCGCCATTCCCCCTCCAAAC ATCCCAGACCCCCTGCCATTCCCACTCTAAACATCCCACACACCCCTGCC ATTCCCCCTCTAAACATCCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(442): Show CCCCCCCTGCTCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATG CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	250	0.0040	449	c.-10 others(468): Show c.-107+5533_-107+5534insTGCTCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAG CCCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DSC1_chr18_31124236_31167856	31150373	C C	CAGCATCA others(442): Show CAGCATCATCATCAGCACCATCATCTTCACCACACTATCATCACCACCAT CACCACCATTATCATCACCACTACCACTATTACCATCACCACTACCACCA TCACCACCACCACCATCATCACCACCACCATCATCAGCAGCACTATCATC ATCACCACACTATCATCACCACCATCACCACCATTATCATCACCATCACC ACCACCACCATCATCACCACTACCACTATTACCATCACCACTACTACCAC CACCACCACCATCATCACCACCACCATCATCAGCAGCACTATCATCATCA CCACACTATCATCACCACCATCACCACCATTATCATCACCATCACCACCA CCACCATCATCACCACTACCACTATTACCATCACCACTACTACCACCACC ACCACCATCATCACCACCACCATCAGCAGCACCATCATCATCACCACACT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	378	0.0027	449	c.628 others(466): Show c.628-1732_628-1731insAGTGTGGTGATGATGATGGTGCTGCTGA TGGTGGTGGTGATGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTAATA GTGGTAGTGGTGATGATGGTGGTGGTGGTGATGGTGATGATAATGGTGGT GATGGTGGTGATGATAGTGTGGTGATGATGATAGTGCTGCTGATGATGGT GGTGGTGATGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTAATAGTGG TAGTGGTGATGATGGTGGTGGTGGTGATGGTGATGATAATGGTGGTGATG GTGGTGATGATAGTGTGGTGATGATGATAGTGCTGCTGATGATGGTGGTG GTGATGATGGTGGTGGTGGTGATGGTGGTAGTGGTGATGGTAATAGTGGT AGTGGTGATGATAATGGTGGTGATGGTGGTGATGATAGTGTGGTGAAGAT GATGGTGCTGATGATGATGCT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DYNC2I1_chr7_158851558_158951189	158916943	C C	CTGGTTGA others(442): Show CTGGTTGACATTAAGGATGATTGAAACGTCGACACGCTGGTTGACATTAA GGATGATTGTGAAACGTCGCTGGTTGACATTAAGGATGACTGTGAAACAT CGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATGCTGGT TGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATTAAGGA TGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAAC GTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACACGCTG GTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAG GATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAA ACGTCTACACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGACACGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	274	0.0037	449	c.179 others(468): Show c.1792-1775_1792-1774insAAACGTCGACACGCTGGTTGACATTA AGGATGATTGTGAAACGTCGCTGGTTGACATTAAGGATGACTGTGAAACA TCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATGCTGG TTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATTAAGG ATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAA CGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACACGCT GGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAA GGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGA AACGTCTACACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGACACG GTGGTTGACATTAAGGATGATTG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917003	G G	GTGAAACG others(442): Show GTGAAACGTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGC TGGTTGACATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTA AGGATGATTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTG AAACCTCTACACGCTGGTTGAGATCAAGGATGATTGTGAAACGTCGACAC GCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACACGCTGGTTGACAT TAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCTAC ACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAC ATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01496.hp1 NA20300.hp2 HG01175.hp1 HG01496.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0103 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0103	3	274	0.0110	449	c.179 others(468): Show c.1792-1727_1792-1726insCTGGTTGACATTAAGGATGACTGTGA AACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATCAAGGATGATTGT GAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACA CGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACA TTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATT GTGAAACGTCTACACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGA CACGGTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGAAACGTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917003	G G	GTGAAACG others(442): Show GTGAAACGTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGC TGGTTGACATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTA AGGATGATTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTG AAACCTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACAC GCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACACGCTGGTTGACAT TAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCTAC ACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAC ATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(80): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18981.hp2 NA18985.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0012 others(4): Show a0001 a0002 a0012 a0014 a0015 a0016 a0020	a0001c0001 a0002c0002 a0002c0017 others(5): Show a0001c0001 a0002c0002 a0002c0017 a0012c0013 a0014c0018 a0015c0026 a0016c0020 a0020c0011	a0001c0001t0005 a0002c0002t0001 a0002c0002t0014 others(9): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0014 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0017t0001 a0012c0013t0001 a0014c0018t0001 a0015c0026t0001 a0016c0020t0001 a0020c0011t0001	a0001c0001t0005g0180 a0001c0001t0005g0202 a0002c0002t0001g0001 others(80): Show a0001c0001t0005g0180 a0001c0001t0005g0202 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0014g0078 a0002c0002t0016g0029 a0002c0002t0017g0024 a0002c0002t0021g0083 a0002c0017t0001g0013 a0012c0013t0001g0104 a0014c0018t0001g0074 a0015c0026t0001g0058 a0016c0020t0001g0001 a0020c0011t0001g0038	83	274	0.3029	449	c.179 others(468): Show c.1792-1727_1792-1726insCTGGTTGACATTAAGGATGACTGTGA AACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTGT GAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCGACA CGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACA TTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGATGATT GTGAAACGTCTACACGCTGGTTGACGTTAAGGATGATTGTGAAACCTCGA CACGGTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGAAACGTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
FOXP1_chr3_70949708_71588728	71435509	C C	CGGAGGGA others(442): Show CGGAGGGAGGGAGGAAGGGACGGAGGGAGGAGAAGGGACGGAGGGAGGAG GAAGGGACGGAGGGAGGGAGGGAGGCACGGAGGGAGGGAGGGAGGGACGG AGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAA GAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGAGGGAGGGACGGA GGGAGGGAGGGAGGGACGGAGGGAGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAA GAGGACGGAGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	96	0.0104	449	c.-16 others(470): Show c.-168+57916_-168+57917insTCCCTTCCTCCCTCCCTCCGTCCC TCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTC CGTCCCTTCTTCCCTCCTCCGTCCTCTTCTTCCCTCCCTCCGTCCCTTCC TCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTCCCTCCCTCC GTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCT CCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCTCCCTCCGT CCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGT GCCTCCCTCCCTCCCTCCGTCCCTTCCTCCTCCCTCCGTCCCTTCTCCTC CCTCCGTCCCTTCCTCCCTCCCTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GNA14_chr9_77418079_77653322	77452609	A A	ATGGAAGT others(442): Show ATGGAAGTGTGTCAGTGGTGTGTGTGGAGGTATATGTGTGTGTGCTGTGC ATATGTGTATGTCTGTGGTGTGTATGTGTGTGTGGTGTGCTTATGTGTAT GTGTATGGTGTGTGTGTGGTGTGTGTATGTGTGTGGTGCATGTGTGTGGT TTGTGTCTGTGTGTGTGGCGTGTATGTGTATGTGTGTGGTGTGTTTGTGG TATGTGTGTATGTGTATGGTGTGTATGTGTATGTGTGTGGTGTGTCTGTG TGGTGTGTATGTGTGTGGTGTGTATGTGTGTGGTGTGTATGTGTGTGTGG TATGTGTGTACGTGTGGTGTGTATGTGTGTGGTGTGTGTGGTATGTGTGT GTTGTGTGGTGTGTGTGTATGTGTGTGGTGTGTGTGTAGTATCTGTGTAT GTGTGGTGTGGTGTGTGGTATGTGTGTAGTGTGTTTATGTATGTGTGGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG01192.hp2 others(8): Show HG01074.hp1 HG01169.hp2 HG01192.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02886.hp2 HG03098.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 others(1): Show a0001c0002 a0001c0004 a0001c0008 a0001c0018	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0018t0001	a0001c0002t0001g0127 a0001c0004t0001g0077 a0001c0004t0001g0125 others(8): Show a0001c0002t0001g0127 a0001c0004t0001g0077 a0001c0004t0001g0125 a0001c0004t0001g0166 a0001c0004t0002g0180 a0001c0004t0002g0201 a0001c0004t0002g0202 a0001c0004t0002g0219 a0001c0008t0001g0132 a0001c0008t0001g0133 a0001c0018t0001g0021	11	240	0.0458	449	c.310 others(468): Show c.310-18088_310-18087insCCCCACACATACATAAACACACTACA CACATACCACACACCACACCACACATACACAGATACTACACACACACCAC ACACATACACACACACCACACAACACACACATACCACACACACCACACAC ATACACACCACACGTACACACATACCACACACACATACACACCACACACA TACACACCACACACATACACACCACACAGACACACCACACACATACACAT ACACACCATACACATACACACATACCACAAACACACCACACACATACACA TACACGCCACACACACAGACACAAACCACACACATGCACCACACACATAC ACACACCACACACACACCATACACATACACATAAGCACACCACACACACA TACACACCACAGACATACACATATGCACAGCACACACACATATACCTCCA CACACACCACTGACACACTTCCA	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6			chr9	TogoVar
GNAS_chr20_58834748_58916192	58842984	C C	CGCTCAAT others(442): Show CGCTCAATTCCCCTCCCCCGCTCAATTCTCCTCCCCCGCTCAATTCCCCT CCCCCAGCTTCCCTCTTTACACCCTGATTCAAGGGTGGAAAAGCCAGTGC AGACCATATGAAGCAACTGAGAGCTATACCAACCCCCGAGGAAAGCACCT ATGGCCCTTAGGCTTGCCCCTAAGTCGAAATTCCTGCTTAATGTAAACAA TGATGGTGTGTTGGCTTTCTGTGACATTAAGTGTTCAGTTTTTCCTCTGG TAATGTCTCAGCCTGAGTTCACCAAGCAAAATGTCTCTAGGGACAAGCAA GAAAAACTAGGGATTGTGTTGAATTTCTTTGGTGTGCCTTTCAAGTGTGG GAGCTATCTTCAGACTGGGTATTCCGGGAGACCCGTTTTCCCACAGAGAA TTATTCATTAGAGAAATGAGCATGTTGCCTTGTTGCAGGATGAATAAACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	302	0.0033	449	c.42 others(466): Show c.42+2098_*42+2099insGCTCAATTCCCCTCCCCCGCTCAATTCT CCTCCCCCGCTCAATTCCCCTCCCCCAGCTTCCCTCTTTACACCCTGATT CAAGGGTGGAAAAGCCAGTGCAGACCATATGAAGCAACTGAGAGCTATAC CAACCCCCGAGGAAAGCACCTATGGCCCTTAGGCTTGCCCCTAAGTCGAA ATTCCTGCTTAATGTAAACAATGATGGTGTGTTGGCTTTCTGTGACATTA AGTGTTCAGTTTTTCCTCTGGTAATGTCTCAGCCTGAGTTCACCAAGCAA AATGTCTCTAGGGACAAGCAAGAAAAACTAGGGATTGTGTTGAATTTCTT TGGTGTGCCTTTCAAGTGTGGGAGCTATCTTCAGACTGGGTATTCCGGGA GACCCGTTTTCCCACAGAGAATTATTCATTAGAGAAATGAGCATGTTGCC TTGTTGCAGGATGAATAAACA	GNAS	ENSG00000087460.29	transcript	ENST00000371075.7	protein_coding	1/12			chr20	TogoVar
GOLT1A_chr1_204193163_204218988	204195224	T T	TACACACA others(442): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACCACACACACCACACATGCACACCACACACATATACAC ACATACACCCACACACACACATCATACACACACACACCACACACATACAC CACACACACCACACATGCACACACACCACACACATATATACGCATACACC CATACACACATCATACACACACCACACACACCACACATGCACACCACACA CATACACGCATACACCCATACACACACATCATACACACACACACCACACA CACCACACACATATACGCATACACCCATACACACACATCATACACACACA TACACCACACACACCACACACGCACACCACACACACACACATACACCCAT GCACACACATCATACACACACAAACCACACATACCACACACATACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0315 a0001c0002t0001g0315	1	414	0.0024	449	c.32 others(460): Show c.3233_*3234insGTGGTGTATGTGTGTGGTATGTGTGGTTTGTGTG TGTATGATGTGTGTGCATGGGTGTATGTGTGTGTGTGTGGTGTGCGTGTG TGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGTGTATGC GTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTGTGTATG GGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTGGTGTGT GTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGTGTGTGC ATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATGATGTGT GTGTGTGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTGGTGTGT GTGGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGTGTGTGT GTATGATGTGTGTGT	GOLT1A	ENSG00000174567.8	transcript	ENST00000308302.4	protein_coding		2938		chr1	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(442): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	188	0.0053	449	c.109 others(468): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTCC others(442): Show TCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCC CCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCC CCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0150 a0003c0005t0002g0151 a0003c0005t0002g0150 a0003c0005t0002g0151	2	290	0.0069	449	c.972 others(464): Show c.972+262_972+263insCCTTCCCCCTCCCCTCCTTCCCCCTCCCCT CCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTC CCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCT CCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTT CCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTC CTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCC CCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTG TCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCC TCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCC CTCCTTCCCCCTTCCCCCT	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(442): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCC CCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCT TCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCA TCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCACCTTC CCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCAC CTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCC CCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0213 a0001c0001t0015g0213	1	290	0.0035	449	c.972 others(464): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTC CCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCC CCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCT TCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCC TTCCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(442): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC TTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTC CCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTC CCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCC CCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTC CCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	290	0.0035	449	c.972 others(464): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTC CCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTT CCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCC CCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCT TCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCC TTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(442): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC TTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTC CCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTC CCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCC CCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTC CCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01258.hp1 HG01261.hp2 others(17): Show HG01109.hp2 HG01258.hp1 HG01261.hp2 HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02723.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03688.hp2 HG03710.hp2 NA18964.hp1 NA18998.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0205 a0001c0001t0003g0206 others(16): Show a0001c0001t0003g0001 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0227 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266	20	290	0.0690	449	c.972 others(464): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTC CCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTT CCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCC CCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCT TCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCC TTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GTPBP6_chrX_299759_323796	321575	A A	ACCAGCAT others(442): Show ACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAA AAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGA CGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGG CAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAGAA AGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCG GGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCAT GGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAA AAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAG CTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0012 a0004c0007t0002g0012	1	155	0.0065	449	c.-27 others(460): Show c.-2789_-2788insCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACC TCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCT AATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGG TCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCC TCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACA CCAGGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTGTAGATAATA GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTTTTCTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCA TATTGCCCATGCTGG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2780		chrX	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(442): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCAACGCCACACACCACACACACA CCACACATGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACACACACCATACACACACACCACACATAC CACACACACCACACACACAACCACACACACACCACACACACAACACACAA CAGACCACACATACACACACCACACATACCACACACACACCACACATACC ACACACACACCACACACACAACCACACACACCACACCATACACACAACCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0076 a0001c0012t0076	a0001c0012t0076g0087 a0001c0012t0076g0087	1	300	0.0033	449	c.203 others(466): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGT GTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGT GTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTG GTCCGTTGTGTGGCATGTGTGGTGTGTGTGTGGTGTGTGGCGTTGGTGTG TGTAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTG TGAGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGT GTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(442): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTTGGGGGGAGGCAGGGCTGGGGGGAGGTGGGGGCTC AGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGC AGGGCTCAGGGGGAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGG TAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGT TCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGG GGCTCAGGGGGAAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGG AGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAG GAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0017 a0002c0001t0024g0017	1	282	0.0036	449	c.623 others(466): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTTGGGGGGAGGCAGGGC TGGGGGGAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAGAGG TGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGAGGTGGGGGCTCAGGAGG GGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACT CAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGG GGCTCTGGAGGGGAGGCGGGGCTCAGGGGGAAGGCGGGGCTCAGGAGGGA GAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTG GAGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGG GCTCTGGAGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(442): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCC CCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCC CTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTC CCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATC CCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCC TCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTC TGTCTCTCTCCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0054 a0004c0009t0002g0054	1	158	0.0063	449	c.11 others(470): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCCTCCCCCCTCTCTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCC TCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCC CCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCA TCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTC CCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCCTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(442): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCC CCCTCTCCCCTCCCCCTCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCA TCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTC CCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0026 a0004c0007t0002g0026	1	158	0.0063	449	c.11 others(470): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCTATCCCCCTCC CCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(442): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAA CCTTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATT TTTAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTAT TTAATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCA CTTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAG CCTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGG CAGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGT GGGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCG CACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	310	0.0032	449	c.448 others(468): Show c.448-14511_448-14510insTTTTTTAAGAGGAGGTTTCTCTCTGT TGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTAC CTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGAC TACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAAA CAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGT TTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCACC ATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTT AACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGG TTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(442): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAACC TTCCCTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTTT TAGATTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATTT AATGCAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCACT TTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGCC TGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGCA GGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTGG GAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGCA CCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18956.hp1 HG00621.hp1 NA18956.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0009 a0003c0003 a0008c0009	a0003c0003t0001 a0008c0009t0001 a0003c0003t0001 a0008c0009t0001	a0003c0003t0001g0192 a0008c0009t0001g0189 a0003c0003t0001g0192 a0008c0009t0001g0189	2	310	0.0065	449	c.448 others(468): Show c.448-14511_448-14510insTTTTTTTTAAGAGGAGGTTTCTCTCT GTTGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCT ACCTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGG ACTACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGA AACAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGC GTTTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCA CCATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCT TTAACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAA GGTTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KDM4B_chr19_4964113_5158598	5131596	A A	AGGGGAGG others(442): Show AGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAGGAGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGGCGGGGGA GGAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGGCAGGTGGGGTGG GGCGGGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0046 a0004c0004t0005g0046	1	270	0.0037	449	c.178 others(466): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGTGGGGGAGGGGGGCAGGGGAG GAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGGGG CGGGGGAGGAGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGGCAGGT GGGGTGGGGCGGGGGAGGAGGGGGGCAGGTGGGGTGGGGCGGGGGAGGAG GGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAG GAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACA GGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGG TGGGGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGG GGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KISS1_chr1_204185341_204201491	204195224	T T	TACACACA others(442): Show TACACACACATCATACACACACACACCACACACATATATACGCACACACC CATACACACACACCACACACACCACACATGCACACCACACACATATACAC ACATACACCCACACACACACATCATACACACACACACCACACACATACAC CACACACACCACACATGCACACACACCACACACATATATACGCATACACC CATACACACATCATACACACACCACACACACCACACATGCACACCACACA CATACACGCATACACCCATACACACACATCATACACACACACACCACACA CACCACACACATATACGCATACACCCATACACACACATCATACACACACA TACACCACACACACCACACACGCACACCACACACACACACATACACCCAT GCACACACATCATACACACACAAACCACACATACCACACACATACACCAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0093 a0001c0001t0017g0093	1	400	0.0025	449	c.-39 others(466): Show c.-39+1151_-39+1152insGTGGTGTATGTGTGTGGTATGTGTGGTT TGTGTGTGTATGATGTGTGTGCATGGGTGTATGTGTGTGTGTGTGGTGTG CGTGTGTGGTGTGTGTGGTGTATGTGTGTGTATGATGTGTGTGTATGGGT GTATGCGTATATGTGTGTGGTGTGTGTGGTGTGTGTGTGTATGATGTGTG TGTATGGGTGTATGCGTGTATGTGTGTGGTGTGCATGTGTGGTGTGTGTG GTGTGTGTATGATGTGTGTATGGGTGTATGCGTATATATGTGTGTGGTGT GTGTGCATGTGTGGTGTGTGTGGTGTATGTGTGTGGTGTGTGTGTGTATG ATGTGTGTGTGTGGGTGTATGTGTGTATATGTGTGTGGTGTGCATGTGTG GTGTGTGTGGTGTGTGTGTATGGGTGTGTGCGTATATATGTGTGTGGTGT GTGTGTGTATGATGTGTGTGT	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding	1/2			chr1	TogoVar
LUC7L_chr16_183990_234449	186105	A A	AACAGCGA others(442): Show AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAAC AGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGGA CAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	350	0.0029	449	c.30 others(460): Show c.3092_*3093insCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGT CCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTG TCCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2884		chr16	TogoVar
MAP3K15_chrX_19355059_19520508	19477857	G G	GGGGAGGG others(442): Show GGGGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGGGGGG AGGGGGGGAGGGGGAGGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGCGG AGAGGGGGGAGGGGCGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAG GGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGAGGGG GGGAGGGGGGAGAGAGGGGGAGAGAGGGGGGAGCGGGGAGAGGGGGGAGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0147 a0003c0004t0001g0147	1	163	0.0061	449	c.525 others(466): Show c.525+8624_525+8625insGCTCCCCCCTCTCCCCGCTCCCCCCTCT CTCCCCCTCTCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCCTCCCCCCT CTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCTC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCTCTCCCCCCTCCCC CCTCTCCGCCCCTCCCCCCTCTCCGCCCCTCCCCCTCCCCCTCCCCCCCC TCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCCCTCCCCCCTCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MINAR1_chr15_79427336_79477304	79439351	G G	GGTGTGGG others(442): Show GGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGGTGGATAGTGA GTGTGTGGGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGTGTGGGTGGGG TGGGTAGTGTGTGGGTGTGGATGGGGTAGGTAGTGTGTGGGGTGTGGGTG GGATGGGTAGTAAGGGTGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGG TGGATAGTGGGTGTGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTG GGTGTGTGTAGGTTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTGTGGG GTGTGGGGTGGGTGGTGTGTGGGTGGGGTGGGTAGTGAGTGTGGGGTGTG GGTGTGTGTAGGTAGTGTGTGGGGTGTGGGTGGGGTGGGTAGTAAGTGTG TGGGGTGTGGGGTGGATAGTGAGTGGGTGGGCGTGGGTGGGTGGTGGGTA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	390	0.0026	449	c.-51 others(466): Show c.-51+6813_-51+6814insGTGGGTGGGGTGGGTAGTGAGTGTGTGG GGTGTGGGGTGGATAGTGAGTGTGTGGGTGTGGGTGGGGTGGGTAGTGAG TGTGTGGGTGTGGGTGGGGTGGGTAGTGTGTGGGTGTGGATGGGGTAGGT AGTGTGTGGGGTGTGGGTGGGATGGGTAGTAAGGGTGTGGGGTGGGTAGT GAGTGTGTGGGGTGTGGGGTGGATAGTGGGTGTGTGTGGGTGGGGTGGGT AGTGAGTGTGTGGGGTGTGGGTGTGTGTAGGTTGTGGGGTGTGGGTGGGG TGGGTAGTAAGTGTGTGGGGTGTGGGGTGGGTGGTGTGTGGGTGGGGTGG GTAGTGAGTGTGGGGTGTGGGTGTGTGTAGGTAGTGTGTGGGGTGTGGGT GGGGTGGGTAGTAAGTGTGTGGGGTGTGGGGTGGATAGTGAGTGGGTGGG CGTGGGTGGGTGGTGGGTAGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGCGTGGA others(442): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAG GGGGGTGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGGGGCACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGC GCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGT GTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGG GCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGT GGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGG AGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	388	0.0026	449	c.159 others(466): Show c.1596+348_1596+349insCCGTGTGGGGGGGCGTGGAGGAGGGGCG TGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGT GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAG GGGGCACGTGGAGGGGGCCGTGTGGGGGGGTGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGG GGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGT GGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGG GCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGG AGGAGGGGCGCGTGGAGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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