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
AGPS_chr2_177387773_177548834	177486726	G G	GCTATATG others(359): Show GCTATATGTATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCGC CCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCTCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGACCGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0019 a0001c0001t0037g0019	1	258	0.0039	366	c.123 others(385): Show c.1233+4552_1233+4553insATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCT CGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCTCGCCACCGCGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGACCGGCCCTATATGTATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(359): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGGAGG GGGAGGGGAGGGGGAGGGGGGGAGGAGGGGGAGGAGGAGGAGGAGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAG GAGGAGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	301	0.0033	366	c.125 others(387): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCC CTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTC CTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTC CTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCT CTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANO2_chr12_5557655_5950259	5929804	T T	CATTAGTC others(359): Show CATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTT CCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTC CTTCCTTACTAGTCTATCTTCTTTCCTTACTCGTCTACCTTCTTTCCTTA TTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCC TTACTCGTCTACCTTCTTTCCTCATTAGTCACTTTCTTACCAGTCTTCCT TCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATT AGTCACTTTCTTACCAGTCTTCCTTCCTTTTCTATCTTCTTTCCTTACTC GTCTGCCTTCTTTCCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp1 others(4): Show HG01167.hp1 HG01169.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp2 HG02809.hp2 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0002 a0001c0005t0006 a0002c0003t0007	a0001c0001t0001g0028 a0001c0001t0002g0140 a0001c0001t0005g0139 others(4): Show a0001c0001t0001g0028 a0001c0001t0002g0140 a0001c0001t0005g0139 a0001c0005t0002g0148 a0001c0005t0006g0130 a0001c0005t0006g0131 a0002c0003t0007g0142	7	162	0.0432	366	c.23- others(381): Show c.23-7000_23-6999insAGGAAAGAAGGCAGACGAGTAAGGAAAGAA GATAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAG GTAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAA GAAAGTGACTAATGAGGAAAGAAGGTAGACGAGTAAGGAAAGAAGATAGA CTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGT AGACGAGTAAGGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAAGA AAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACT AGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5932309	G G	GAGTAAGG others(359): Show GAGTAAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACT AATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGA AGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGA GGAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAACAAAGTGACTAA AAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAG GAAGGCTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGG AAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAACAAAGTGACTAATA AGGAAAGAAGGTAGACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0161 a0002c0003t0002g0161	1	162	0.0062	366	c.23- others(381): Show c.23-9506_23-9505insTGTCTACCTTCTTTCCTTATTAGTCACTTT GTTACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTA CCTTCTTTCCTTATTAGTCACTTTCTTACCAGCCTTCCTTCCTTACTAGT CTATCTTCTTTCCTCACTCGTCTGCCTTCTTTCCTTTTTAGTCACTTTGT TACCAGTCTTCCTTCCTTACTAGTCTATCTTCTTTCCTCACTCGTCTGCC TTCTTTCCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCT ACCTTCTTTCCTCACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTA CCAGTCTTCCTTCCTTTTCTGTCTTCTTTCCTTACT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(359): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTC GCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCA ACCTCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTA GTAGAGACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02293.hp2 NA18966.hp2 HG01981.hp1 HG02293.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0281 a0001c0001t0001g0299 a0001c0001t0001g0229 a0001c0001t0001g0281 a0001c0001t0001g0299	3	392	0.0077	366	c.703 others(381): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCT CTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACC TCTACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTA GAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTAA others(359): Show CGTATTAATACATATATGTATAAATACGTATTAATACATATATGTATAAA TACGTATTAATACATATATGTATAAATACATACATATTTATACATATATG TATACATACATATTTATACATATATATGTATAAATACGTACATATTTATA CATATATATGTATAAATACATACGTATTTATACATATATATGTATAAATA CGTACATATTTATACATATATATGTATAAATACGTACATATTTATACATA TATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTA CATATTTATACATATATATGTATAAATACGTACATATTTATACATATATG TATAAATACGTACATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0025 a0001c0001t0110g0025	1	256	0.0039	366	c.39 others(375): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACGTATTAATACATATATGTATAAATACATACATAT TTATACATATATGTATACATACATATTTATACATATATATGTATAAATAC GTACATATTTATACATATATATGTATAAATACATACGTATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACGTACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1825174	C C	CCACCTGT others(359): Show CCACCTGTTCACCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCTGCACCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0031 a0001c0012t0001g0031	1	363	0.0028	366	c.-48 others(383): Show c.-48+1068_-48+1069insTCACCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTT CACCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCT GTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCAC ACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(359): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTCCCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCTCTT CCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	264	0.0038	366	c.102 others(383): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCC TCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(359): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCA CCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTAC CCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCA CCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCC CCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0211 a0001c0002t0013g0211	1	254	0.0039	366	c.39+ others(383): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCAC CCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCA CCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCC CCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(359): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18989.hp2 NA19065.hp1 HG01952.hp1 NA18989.hp2 NA19065.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0300 a0004c0005t0001g0302 a0004c0005t0001g0309 a0004c0005t0001g0300 a0004c0005t0001g0302 a0004c0005t0001g0309	3	356	0.0084	366	c.249 others(385): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179522820	A A	AATATCCT others(359): Show AATATCCTAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0303 a0004c0005t0001g0303	1	356	0.0028	366	c.249 others(385): Show c.2497-2503_2497-2502insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATATATATATATATATATCCTAATT	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
BABAM2_chr2_27885729_28343901	27910319	T T	TAGAAAGC others(359): Show TAGAAAGCATCAGAGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGG CTGAGCCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	158	0.0063	366	c.128 others(385): Show c.128+15654_128+15655insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGAGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGG GAGGCTGAGCCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAGAAAGCATCAGAGAAACA	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAIAP2L2_chr22_38079900_38115684	38110122	A A	ATAGAGAG others(359): Show ATAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGGGATAG AGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAG GGAGAGAGAGAGGAGAGAGAGGGAGAGAGAGAGAGAGAGGGATAGAGAGA GAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGGGAGA GAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGA GGGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGAGAGAGAGAGGGAGA GGGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGACAGGGAGAGAGA GACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0014 a0002c0001t0004g0014	1	18	0.0556	366	c.51+ others(379): Show c.51+352_51+353insCTCTCTCTCTCTCTGTCTCTCTCTCCCTGTCT CTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCTCTCT CTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCT CTCCCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCCCTCTCTCTCT CTCTCTCCCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTATCCCTCT CTCTCTCTCTCTCCCTCTCTCTCCTCTCTCTCTCCCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCCCTCTCTCTCTCTCTCTCTCTATCCCTCTCTCTC TCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTA	BAIAP2L2	ENSG00000128298.18	transcript	ENST00000381669.8	protein_coding	1/13			chr22	TogoVar
BBS9_chr7_33124564_33611069	33155705	A A	AAGAAATA others(359): Show AAGAAATATTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0240 a0001c0009t0001g0241 a0001c0009t0001g0240 a0001c0009t0001g0241	2	268	0.0075	366	c.328 others(379): Show c.328+15_328+16insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGAAATATTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CACNA1A_chr19_13201442_13511479	13381387	A A	AGACCCTG others(359): Show AGACCCTGTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	218	0.0046	366	c.540 others(383): Show c.540-9609_540-9608insATGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGATACAGGGTC	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(359): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0002 a0006c0003t0002	a0006c0003t0002g0173 a0006c0003t0002g0173	1	338	0.0030	366	c.300 others(383): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(359): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19056.hp2 HG01346.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0163 a0001c0001t0006g0098 a0001c0001t0003g0163 a0001c0001t0006g0098	2	386	0.0052	366	c.803 others(380): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(359): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGA CGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	386	0.0026	366	c.803 others(380): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACAGGGAGAGGGAGAGGGAGACGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(359): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	386	0.0026	366	c.803 others(380): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(359): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACACATGCATACATATACACATGCACACAATGTACACACAT GCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01261.hp2 NA18983.hp2 HG01106.hp1 HG01261.hp2 NA18983.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0018 a0004c0012 a0001c0001 a0001c0018 a0004c0012	a0001c0001t0001 a0001c0018t0001 a0004c0012t0001 a0001c0001t0001 a0001c0018t0001 a0004c0012t0001	a0001c0001t0001g0276 a0001c0018t0001g0263 a0004c0012t0001g0121 a0001c0001t0001g0276 a0001c0018t0001g0263 a0004c0012t0001g0121	3	284	0.0106	366	c.380 others(383): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATG CATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGT ATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTG TGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(359): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTTTATAAAATATATATTATATTATATATAATATATATTATA TAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	288	0.0035	366	c.154 others(385): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTTTATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905918	T T	TATATAAT others(359): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATATTATATAATATATATTATATAAAATATAT ATTATATTATATATAATATATATTTTATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	288	0.0035	366	c.154 others(385): Show c.1546+1164_1546+1165insATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATATTATATAATATATATTATATAAAATATATATTATATTATATAT AATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATAATATAATATATATTATATAAAATATATATTATATTAT	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(359): Show TCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCGC CACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTC ACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACA GCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCTATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCC CCTCACCTGCCACGGCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0186 a0001c0007t0001g0186	1	284	0.0035	366	c.411 others(383): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATA GGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTG AGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAG CTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(359): Show TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCAC AGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0002 a0003c0027t0002	a0003c0027t0002g0060 a0003c0027t0002g0060	1	284	0.0035	366	c.411 others(383): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTCTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATTTAT others(359): Show ATATTTATATAAATATATATATAACATATATATATATTTATATAAATATA TATATAACATATATATATATTTATATAAATATATATATAACATATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATATTT ATATAAATATATATATAACATATATATATTTATATAAATATATATATAAC ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	424	0.0024	366	c.-29 others(383): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATATTTATATAAATATATATATAACATATATATATTTATATAAATATAT ATATAACATATATATATATTTATATAAATATATATATAACATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATTTATATAAATATATATATAACATATATATATTTATATA AATATATATATAACATATATATATTTATATAAATATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CD6_chr11_60966680_61025377	61011636	C C	CAAGAAAG others(359): Show CAAGAAAGGAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0165 a0003c0005t0001g0165	1	302	0.0033	366	c.115 others(383): Show c.1150+514_1150+515insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGAGCTG	CD6	ENSG00000013725.14	transcript	ENST00000313421.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH13_chr16_82621969_83805640	83658326	A A	AAGGTCCC others(359): Show AAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCC CGTATCCTCACCAGCAAGGTCTCATGTCCTTACCACCAGGTCCCATATCC TCACCAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAG CAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTC TCATGTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATATC CTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCTCATGTCCTCACCA CCAGGTCCCATGTCCTCACCAGCAAGGTCCCATATGCTCACCAGCAAGGT CTCATGTCCTCGCCACC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01099.hp1 others(8): Show HG00597.hp2 HG00639.hp1 HG01099.hp1 HG01255.hp1 HG01884.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03516.hp1 HG03942.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0038 a0001c0003t0004	a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0002g0076 others(8): Show a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0002g0076 a0001c0001t0003g0042 a0001c0001t0007g0041 a0001c0001t0011g0081 a0001c0001t0025g0071 a0001c0002t0001g0059 a0001c0002t0002g0043 a0001c0002t0038g0023 a0001c0003t0004g0057	11	110	0.1000	366	c.110 others(387): Show c.1102-12385_1102-12384insTACCACCAGGTCCCATATCCTCAC CAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAG GTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCAT GTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATATCCTCA CCACCAGGTCCCATATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAG GTCCCATGTCCTCACCAGCAAGGTCCCATATGCTCACCAGCAAGGTCTCA TGTCCTCGCCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTC ACCACCAGGTCCCGTATCCTCACCAGCAAGGTCTCATGTCCT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH13_chr16_82621969_83805640	83658399	A A	ATGTCCTT others(359): Show ATGTCCTTACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATATCCT CACCACCAGGTCCCATGTCCTCACCAGCAAGGTCCCATATCCTCACCACC AGGTCCCATGTCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCC ATATCCTCACCAGCAAGGTCCCATATCCTCACCACCAGGTCCCATATCCT CACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCATGTCCTCACCAGC AAGGTCCCATATGCTCACCAGCAAGGTCTCATGTCCTCGCCACCAGGTCC CATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGGTCCCGTATCC TCACCAGCAAGGTCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03139.hp1 HG03041.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0036 a0001c0002t0015 a0001c0001t0036 a0001c0002t0015	a0001c0001t0036g0002 a0001c0002t0015g0039 a0001c0001t0036g0002 a0001c0002t0015g0039	2	110	0.0182	366	c.110 others(387): Show c.1102-12385_1102-12384insTACCACCAGGTCCCATATCCTCAC CAGCAAGGTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAG GTCCCATATCCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCTCAT GTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATATCCTCA CCACCAGGTCCCATATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAG GTCCCATGTCCTCACCAGCAAGGTCCCATATGCTCACCAGCAAGGTCTCA TGTCCTCGCCACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTC ACCACCAGGTCCCGTATCCTCACCAGCAAGGTCTCCTGTCCT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(359): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG03834.hp1 HG01175.hp2 HG01192.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102	3	388	0.0077	366	c.487 others(383): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(359): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATAGAAT ATATATATATAGAATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	388	0.0026	366	c.487 others(383): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTAGATAG others(359): Show CTAGATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	440	0.0023	366	c.11 others(377): Show c.1196_*1197insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTAGATGTATCTATATATCTATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAG others(359): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATAC ATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAG ATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	440	0.0023	366	c.11 others(377): Show c.1196_*1197insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTAGATGTATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(359): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCCTTCCTCTTCTTCCTCCC TCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTT ATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCC TTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTC CCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0041 a0003c0004t0005g0041	1	354	0.0028	366	c.69 others(377): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTACCCCC TTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCTCCTTCCTCCCTCCTC TCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP46_chr10_132803392_132947570	132896147	A A	AAGACATG others(359): Show AAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGG TGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACACGGTGAGAAGGC AGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCT CTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCC ACATGAAGACATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGA CATGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAG AAGGCAGCCAGGCTCTGTGTGCCACATGAAGACATGGTGAGAAGGCAGCC AGGCTCTGTGTGCCATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0044 a0044	a0044c0102 a0044c0102	a0044c0102t0002 a0044c0102t0002	a0044c0102t0002g0018 a0044c0102t0002g0018	1	246	0.0041	366	c.321 others(385): Show c.3219+2811_3219+2812insCATGGCACACAGAGCCTGGCTGCCTT CTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATG TCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTTCATGT GGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAG AGCCTGGCTGCCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCT GCCTTCTCACCATGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCA CCGTGTCTTCATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCTT CATGTGGCACACAGAGCCTGGCTGCCTTCTCACCATGTCT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(359): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATGAATATATATATGAATATATAT ATATGAATATATATATATGAATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	245	0.0041	366	c.124 others(381): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATATTCATATATA TATATTCATATATATATTCATATATATATATTCATATATATATATTCATA TATATATTCATATATATATTCATATATATATATTCATATATATATATTCA TATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911175	G G	GTGTGTAT others(359): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATAT GAATATATATATATGAATATATATATATGAATATATATATGAATATATAT ATATGAATATATATATATGAATATATATATATGAATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	245	0.0041	366	c.124 others(381): Show c.1244+85_1244+86insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATATTCATATATA TATTCATATATATATATTCATATATATATATTCATATATATATATTCATA TATATATTCATATATATATATTCATATATATATATTCATATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CIP2A_chr3_108544864_108594438	108575583	T T	TGTGTGTA others(359): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCATA TACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACG TATATATACTCATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18939.hp2 NA18977.hp1 HG02040.hp2 NA18939.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269	3	372	0.0081	366	c.894 others(381): Show c.894+687_894+688insGTATATGAGTATATATACGTGTATATACAC ACGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATAT ACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575844	T T	TCATATAC others(359): Show TCATATACATGTGTATATATACGCGTATATATACTCATATACATGTGTAT ATATACGCGTATATATACTCATATACATGTGTATATATACGCGTATATAT ACTCATATACATGTGTATATATACGCGTATATATACTCATATACATGTGT ATATATACGCGTATATATACTCATATACATGTGTATATATACGCGTATAT ATACTCATATACATGTGTATATACGTGTATATATACTCATATACATGTGT ATATATACGTATATATACACATATACATGTGTATATATACGCGTATATAT ACTCATATACATGTGTATATACGTGTATATATACTCATATACATGTGTAT ATATACGTATATATACA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0005 a0015c0021t0005	a0015c0021t0005g0154 a0015c0021t0005g0154	1	372	0.0027	366	c.894 others(381): Show c.894+426_894+427insTGTATATATACGTATATATACACATGTATA TGAGTATATATACACGTATATACACATGTATATGAGTATATATACGCGTA TATATACACATGTATATGTGTATATATACGTATATATACACATGTATATG AGTATATATACACGTATATACACATGTATATGAGTATATATACGCGTATA TATACACATGTATATGAGTATATATACGCGTATATATACACATGTATATG AGTATATATACGCGTATATATACACATGTATATGAGTATATATACGCGTA TATATACACATGTATATGAGTATATATACGCGTATATATACACATGTATA TGAGTATATATACGCGTATATATACACATGTATATG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNOT1_chr16_58514951_58634826	58586422	G G	GGGAGGGG others(359): Show GGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGG GCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGG GAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGG GAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGA AGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAG GGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGA AGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGG AGGGGGGAGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	308	0.0033	366	c.637 others(381): Show c.637+122_637+123insGCCCTCCCCTCCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCTTCCCTTCCCTCCC CTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTT CCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCCCCTCCCCCTCCC CCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCC TTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098422	A A	AATATATA others(359): Show AATATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATAAATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATAAATATATAAA TATATAAATATATATGTAAATATATAAATATATAAATATATATGTAAATA TATAAATATATATAAATATATATGTAAATATATATAAATATATAAATATA TATAAATACATATGTAAATATATAAATATATATAAATATATAAATATATA TAGATATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0021 a0002c0008t0006g0021	1	264	0.0038	366	c.181 others(385): Show c.1812+3049_1812+3050insATTTACATATATATCTATATATATTT ATATATTTATATATATTTATATATTTACATATGTATTTATATATATTTAT ATATTTATATATATTTACATATATATTTATATATATTTATATATTTACAT ATATATTTATATATTTATATATTTACATATATATTTATATATTTATATAT TTATATATATATTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATTTATATATATTT ATATATATATTTATATATTTATATATATTTATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CROCC2_chr2_240901336_240998311	240924738	C C	CCCGGCCC others(359): Show CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACT AATCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTGACCCGGCCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGG CCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACC CGGCCCCCCACACTAAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0010 a0010	a0010c0048 a0010c0048	a0010c0048t0001 a0010c0048t0001	a0010c0048t0001g0207 a0010c0048t0001g0207	1	350	0.0029	366	c.489 others(381): Show c.489-984_489-983insGGCCCCCACACTAACCCGGCCCCCCACACT AACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCC TCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGC CCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCG GCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACC CGGCCCCCACACTAACCCGGCCCCCCACACTAATCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3411792	A A	ATACGTGT others(359): Show ATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTATAT ATATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTAT ATATATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGT ATATATATACGTGTGCATATATATATACGTATATATATATACGTGTATGT ATACGTATATATACGTATATATACACACGTGTATGTATACGTATATATAT ACGTATATATACACGTATATATATACGTATATATACGTATATATATACGT ATATATACGTATATATATACGTATATATACGTATATATATACGTATATAT ACGTATATATGTATATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0038 a0001c0109t0038	a0001c0109t0038g0013 a0001c0109t0038g0013	1	126	0.0079	366	c.156 others(385): Show c.1562-2188_1562-2187insCATATACATATATACGTATATATACG TATATATATACGTATATATACGTATATATATACGTATATATACGTATATA TATACGTATATATACGTATATATATACGTGTATATATACGTATATATATA CGTATACATACACGTGTGTATATATACGTATATATACGTATACATACACG TATATATATATACGTATATATATATGCACACGTATATATATACGTATATA TACACACGTATATATATACGTATATATACACACGTATATATATACGTATA TATACACACGTATATATATACGTATATATACACACGTATATATATACGTA TATATACACACGTATATATATACGTATATATACACACGTA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTTNBP2NL_chr1_112391214_112466164	112417333	A A	AGATTACT others(359): Show AGATTACTATAATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	324	0.0031	366	c.99+ others(381): Show c.99+1087_99+1088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTCGATTACTATAATACTTCT	CTTNBP2NL	ENSG00000143079.15	transcript	ENST00000271277.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGAGGGG others(359): Show AGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGAAGGGGAGGGAGGGGAGGG GAGGGGAGGAGGGGGGGAGGGGAGGGGGAGGAGGGGGGGGAGGGGAGGGG GGGGGGAGGGGGGGGGGGGGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGG GGGGGAGGGGGAGGGGGGGGGAGGGAGGGGGAGGGGGGGGGAGGGGAGGG GGAGGGGGGGGGAGGGGGGAGGGGAGGGGGAGGGGTGGGGGGAGGGGAGG GGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGGGGGGAGGGGA GGGGAAGGGGAGGGGGAGGGGAGGGGGAGAGAGGGGAGGGGGAGGGGAGG GGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	216	0.0046	366	c.923 others(385): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTCCCCTC CCCCTCCCCTCTCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCC CCCCCCTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCCTCCCCTC CCCCCACCCCTCCCCCTCCCCTCCCCCCTCCCCCCCCCTCCCCCTCCCCT CCCCCCCCCTCCCCCTCCCTCCCCCCCCCTCCCCCTCCCCCCCCCCTCCC CCCCCCTCCCCTCCCCTCCCCCCCCCCCCCCCCCTCCCCCCCCCCTCCCC TCCCCCCCCTCCTCCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCCCT CCCTCCCCTTCCTCCTCCCCTCCCCCTCCCCTCCCCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(359): Show ACCACACCAGGCCACGCCACACCAAAGCCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAGGCCA CACCACACCACACCACACCACGCCACACCACACCAGGCCACACCACACCA GGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0314 a0001c0001t0016g0314	1	404	0.0025	366	c.510 others(381): Show c.510+619_510+620insGGCCACGCCACACCAAAGCCACACCACACC AGGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACC ACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACC ACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACC AGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCC ACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACC ACACCAGGCCACACCACACCACACCACACCACGCCACACCACACCAGGCC ACACCACACCAGGCCACACCACACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIDO1_chr20_62872743_62931505	62875272	C C	CCACCCCC others(359): Show CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCAC CCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCC GCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0001 a0021c0026t0001	a0021c0026t0001g0124 a0021c0026t0001g0124	1	320	0.0031	366	c.39 others(377): Show c.3960_*3961insCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTCGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTCGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2470		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1508349	C C	CGCAAACC others(359): Show CGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCAC CACCCCCCACCCCCCCCACCCCTCACCACCCCCTGCAAACCCCCACCCCC CCCCGCAAACCCCCGCCACCCTCTGCAAACCCCCGCCACCCCCTGCAAAC GCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCGCCACCCCC TGCAAACGCCCACCACCCCCCACCCCTCACCACCCCCTGCAAACCCCCAC CCCCCCCACAAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCA AACCCCCGCCACCCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	366	c.172 others(383): Show c.172+6963_172+6964insTCACCACCCCCTGCAAACCCCCGCAAAC CCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCCCCCACCCCTC ACCACCCCCTGCAAACCCCCACCCCCCCCCGCAAACCCCCGCCACCCTCT GCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACC ACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACC CCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCC CCTGCAAACCCCCGCCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACC CCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(359): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAACAAAGAAAGAAAGAAAGAAAGAAAG AAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0020 a0002c0005t0002g0020	1	126	0.0079	366	c.199 others(385): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DNAJC4_chr11_64225548_64239281	64237081	C C	CGAGAGAG others(359): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGGGAGG GAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	338	0.0030	366	c.28 others(377): Show c.2897_*2898insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAG AGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAG AGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2801		chr11	TogoVar
DOCK8_chr9_209865_470255	321127	T T	TGACCGAA others(359): Show TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19011.hp2 HG02622.hp1 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0067 a0001c0003 a0001c0067	a0001c0003t0001 a0001c0067t0001 a0001c0003t0001 a0001c0067t0001	a0001c0003t0001g0097 a0001c0067t0001g0006 a0001c0003t0001g0097 a0001c0067t0001g0006	2	256	0.0078	366	c.827 others(383): Show c.827+4120_827+4121insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar

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