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
THEG_chr19_356747_381026	361080	GTTTGACT others(633): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCGTCAGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGA CGGTCCCGTGGGCCCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCTGT CGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGT TTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAG GAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCG TGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGA CTCCGACGGTCCCGTGGGCCCTCAGGAGGAGCGTCAGCTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02895.hp1 HG02897.hp1 HG01175.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0019 a0001c0001t0001g0195 a0001c0001t0001g0220	3	360	0.0083	-640	c.48 others(10): Show c.480_*1119del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		666		chr19	TogoVar
ACAP3_chr1_1287391_1312930	1289489	TCCCGTGT others(632): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0108 a0001c0016t0002g0108	1	253	0.0040	-639	c.34 others(11): Show c.3436_*4074del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2901		chr1	TogoVar
CD7_chr17_82309873_82322608	82318737	ACGTGTGT others(632): Show ACGTGTGTGCAGAGACGGGTGCACTTGACTCCATGCGTGTGTGCAGAGAC GGGTGCGTGTGGACACGCGTGTGTGCAGAGACGGGTGTGTGTGGACACGC ATGTGCAGAGACGGGTGCGTGTGAACACGTGTGTGTGCAGATGGGTGCGC ATGACTCCACGCGTGTGTGCAGAGACGGATGTGTGTGGACACGCGTGTGT GCAGAGACGGGTGTGTGTGGACACGCATGTGCAGAGACGGGTGTGTGTGG ACACTTTGTGCAGAGACGGGTGCGCGTGACTCCATGCGTGTGTGCAGAGA CGGGTGCGTGTGGACACGCGGGTGTGCAGAGACGGGTGCGTGTGGACACG TGCGTGTGTAGAGACGTGTGCGTGTGGACGTGCGTGTGCAGAGACGGGTG TGTGGACACTTGTGTGTGCAGAGACGGGTGCGCGTGACTCCATGCATGTG TGCAGAGACGGGTGCATGTGGACACGCGTGTGTGCAGAGATGGATGTGTG TGGACACGCATGTGCAGAGACGGGTGCGTGTGGACACGTGTGTGTGCAGA GATGGGTGCGCATGACTCCACGCGTGTGTGCAGAGACGGGTGCGCGTGAT TCCACGCATGTGTGTGCAGAGACGGGTGCGTGTGGACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03195.hp2 HG02717.hp1 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	414	0.0072	-639	c.-18 others(11): Show c.-1881_-1243del	CD7	ENSG00000173762.8	transcript	ENST00000312648.8	protein_coding		1130		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3795188	CCTATCAT others(632): Show CCTATCATGTACAGATATAGATACCTATCATGTACAGATATAGATATATA TCTATCATGTACACATATAGATATATATCTATCATGTACAGATATATATA TCATGTACAGATATATATATCTATCATGTACAGATATAGATATCTATCAT GTAGATATAGATATATATCTATCATGTATATAGATATATATCATGTATAG ATATAGATATCTATCATAGATATAGATATATATCTATCATAGATATAGAT ATATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATAT ATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATCT ATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATGTA TAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTATCATGTA CAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATGTACAGA TATAGATATATACCTATCATGTACAGATATAGATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG03195.hp1 HG01884.hp2 HG02280.hp1 HG03195.hp1	a0002 a0002	a0002c0022 a0002c0053 a0002c0054 a0002c0022 a0002c0053 a0002c0054	a0002c0022t0035 a0002c0053t0022 a0002c0054t0079 a0002c0022t0035 a0002c0053t0022 a0002c0054t0079	a0002c0022t0035g0048 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0022t0035g0048 a0002c0053t0022g0041 a0002c0054t0079g0096	3	116	0.0259	-639	c.819 others(19): Show c.819-41785_819-41147del	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
DUSP11_chr2_73757213_73785103	73784464	GATTTCTT others(632): Show GATTTCTTTCCCCCTATATTCCCAAACAGCTTGGAATAACAGGGAAAGTA TTGAAGTAGAAATCCAGAGACCTCATTTCAGTTTTGGCTTTGACATTTAC TAGCTGTGTGACTTTAGATAACTTTTATTCTCTCACAAAATCTGTTTCCT CATCTATTACACTAGGATAATAGACTGGTTATTCCCCCTGGCCCTTTTCT TTTCTAATACTGAGTCTTAAAGGGTATACGTATAGAAAATGAAATCAGAG ACTTTCTGAGAGTGTTCATTTCAACAGAAACAGAGAAAAAACCAAAGTGG TCTAGAAAACTAGCAATATATTCTGAGATGTTTCATGTGTAATAGCCTCC CTCCACTAATATTTCAACTTTCGTATTTTAAATTTAGTGATGTTTAGTGA TGTTTTAAATAATATTCAGCCAGGCACGGTGGCTCACACCTGTAATCTCA GCACTTTGGGAGGCCATCTCCCTCACTAATATTTCAACTTTCCTATTTTA AATTTAGTGATGTTTACTGATGTGTAGTGATGTTTTTAATATTCAGTTGG GCGTGGTAGCTCATGCCTGCAATGTCAATGCTTTGGGAGCCTGAGGTGGG AGGATCGCTTTGGGCCTAGGAGTTCCCGGCCAGTCTGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA20300.hp2 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	2	384	0.0052	-639	c.-51 others(11): Show c.-5129_-4491del	DUSP11	ENSG00000144048.11	transcript	ENST00000272444.8	protein_coding		4362		chr2	TogoVar
FGF10_chr5_44295247_44394420	44344276	TATGGATT others(632): Show TATGGATTCATGCTTGAATGGGGATAAATTCAGGCAGATGATAATACCAT GTCTGAATAAAGACAAACTGTTAGGAAAATAGCATTTTAAGCAATTGTAT TTGTTACTAGGGTACTATAAAAACCACAAGATGTGTCATTTGAAAGTTGT TAAAAAGATTAAATGAATTTTTTTATTACAAAATTTCAAACAAACAGTAA AAATATCAGATTTGAGATGAGTTATAGTTGGGGCAAAAGTTAACCTTTTT TTTTTCCTTTACCAAAATTAGGGTTTTACTGTTTTGTTTTCTCTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAACCAACTCTCTGACCCACT TCTGCTTCCAGGGTCAAATATTTTGCATTTCCAATACTCAGGATTGAGAG AGTACAAGTTTTCCTTCATGATGATTTTCTGTGGAACATTTGCTAATAAT AACTAAGTTTCAGCATTGTTATGATTTTATAGTATGTACTGGGTCAGTGG TTTCTAGGGGTCAGTAAAAGAAAGGAAGTTTTGGAACTTTCAAAGGATTT CATTTGAAAAAATAACTTTTCGAATTTGGATAATAGCACTTGTATATTCC TTGTAGTTTCCCTGATTCAAGGCAATAAGCAGTATATACA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	348	0.0029	-639	c.326 others(19): Show c.326-34385_326-33747del	FGF10	ENSG00000070193.5	transcript	ENST00000264664.5	protein_coding	1/2			chr5	TogoVar
RNF213_chr17_80255852_80403794	80314358	GAGGTGAT others(632): Show GAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGTGGTGGT GGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTG GAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGG TGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAGGTG ATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGG TACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTG GTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTAC TGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGATG GTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0084 a0084	a0084c0091 a0084c0091	a0084c0091t0009 a0084c0091t0009	a0084c0091t0009g0289 a0084c0091t0009g0289	1	290	0.0034	-639	c.281 others(19): Show c.2811+1201_2811+1839del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SECTM1_chr17_82316024_82338766	82318737	ACGTGTGT others(632): Show ACGTGTGTGCAGAGACGGGTGCACTTGACTCCATGCGTGTGTGCAGAGAC GGGTGCGTGTGGACACGCGTGTGTGCAGAGACGGGTGTGTGTGGACACGC ATGTGCAGAGACGGGTGCGTGTGAACACGTGTGTGTGCAGATGGGTGCGC ATGACTCCACGCGTGTGTGCAGAGACGGATGTGTGTGGACACGCGTGTGT GCAGAGACGGGTGTGTGTGGACACGCATGTGCAGAGACGGGTGTGTGTGG ACACTTTGTGCAGAGACGGGTGCGCGTGACTCCATGCGTGTGTGCAGAGA CGGGTGCGTGTGGACACGCGGGTGTGCAGAGACGGGTGCGTGTGGACACG TGCGTGTGTAGAGACGTGTGCGTGTGGACGTGCGTGTGCAGAGACGGGTG TGTGGACACTTGTGTGTGCAGAGACGGGTGCGCGTGACTCCATGCATGTG TGCAGAGACGGGTGCATGTGGACACGCGTGTGTGCAGAGATGGATGTGTG TGGACACGCATGTGCAGAGACGGGTGCGTGTGGACACGTGTGTGTGCAGA GATGGGTGCGCATGACTCCACGCGTGTGTGCAGAGACGGGTGCGCGTGAT TCCACGCATGTGTGTGCAGAGACGGGTGCGTGTGGACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG03195.hp1 HG02717.hp2 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0002 a0001c0001t0001g0006	3	372	0.0081	-639	c.27 others(11): Show c.2785_*3423del	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		2286		chr17	TogoVar
TUBD1_chr17_59854479_59897943	59868698	GTGGTGGC others(632): Show GTGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGG AATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTCAGCCAATATTGCGCCA CTGCACTCCAGCCTGGCGACGGAGCGAGACTCCATCTCAAAAAATAAATA AATAAATAAATAAATAAGAAAATTAGTCACTTATGGTGGTACACACCTGT AGTCCTAGCTATAGGAAGCTGCGATAGGAGGATCACTTGAGCCCAGGAGT TTGAGGCTGCATTGAGCTATGATTGCGCCACTGCACTCCAGCCTACGTGA CAGAGTGAAACCCCATCTCAAAAACAAAACAAAACAAAATCTTCCCACAG AGCAAAGAATATATGAAGAGTTATAAAACTAGATCCTTCAACCTGGTTTG TGCCATATATATATATTTATTCATATACTATTCATACATGTGTATGAAAA CATTTATATGTTCAAACTATACAACTGTGAAAAAATGCTGACACCCGGCC GGGCATGGTGGCTTCTGCCTATAATCCCAGAACTTTGGGAGGCCAAGGCG GGCAAATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAA ACCCCGTCTCTACTAAAAAAATACAAAAATTAGACGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0132 a0002c0001t0001g0132	1	358	0.0028	-639	c.935 others(17): Show c.935-2588_935-1950del	TUBD1	ENSG00000108423.15	transcript	ENST00000325752.8	protein_coding	6/8			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1235637	CCCCTCTG others(631): Show CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCTCTGCCTCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCT TTCAGGTGATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCG AGAGCCACCACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTC CCACTGCTGTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGG ATTTGCCAGTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGA CGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTG TAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTG GCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	100	0.0100	-638	c.136 others(19): Show c.1362-2430_1362-1793del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
CYP4F11_chr19_15907377_15939529	15931087	AAGGGAGT others(631): Show AAGGGAGTGGCCAACTTTTATTCAGGCAGGTAACAAGGCCGACTGGGACA TGTTAGTGAGGAAGAGCAAGATAGGAGGAAGGTGCCTCCAGAAAAGGAGG CAGCGGGAGACTGCCCACACTTCTCTTCTGGACCCTCTGTGTCCCTGCGT ATGGAAAGGGGCTCAGAGCTAATTCCTGTGAGAAAGCAGCAGCACAGAGA TGGGCAGACACAAGCAAATGGGCCAGGCAGGGAGTAGTCCCTGGACAGTA GACTCAGGAGGCCTCAAGTCCAGCAGTGGAGAAGGTGCAAATGCCAGGAG ATCTTTGCTCTGTGCACCCATACCACTCCCACAGGAGACCCTCAGAGGTG CAGTAACACAGGGAAGACAGGCAGGAAAAAGATCCAAGCAGGCTGGAGTG GGAGGACAGGGAGGTGAGAAAGACTTGGGATGGCACATCAGAGGAATGAG TGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGA GAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAG TGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGA GAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0021 a0003c0016t0021	a0003c0016t0021g0073 a0003c0016t0021g0073	1	382	0.0026	-638	c.199 others(17): Show c.199-2124_199-1487del	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
ECH1_chr19_38810422_38836794	38828564	CTGACCCC others(631): Show CTGACCCCAAGATGACCCAGATGTTGAGATTAGAAGATAAGGAGTTTTTG TTTTGTTTTTATTTTGTTTTTAGAGGGAGTCTCGCTATGTCACCCAGGCT GGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAAAGGTGCC CGCCACCATGCCTGGCTAATATTCTTTTTTTTTATTTTTAGTAGAGATGG GGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCTGCCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACA CCTGGCCAGAAGACAAGGATTTTAAATCAGTCATTATAACTATGCTCAAT GGCAGGAAGAAAAACATGCATGACAAAAAATATACAACTGACCAGGCACA GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGGGGGCCGAT CACTGGAGGCCAGGAGTTCAAGACCCGCCTGGCCAAAATGGTGAGACCCC GTCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGCCGGGTGCCTGT AATCACAAGTACTCAGGAGGCTCAGGCAGGAGAATGGCT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	418	0.0024	-638	c.349 others(17): Show c.349+1876_349+2513del	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding	3/9			chr19	TogoVar
MYT1_chr20_64159452_64247253	64173786	CCTGCAGC others(631): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTA GCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCA TCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	218	0.0046	-638	c.-99 others(17): Show c.-99+9050_-99+9687del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPH3AL_chr17_207389_357807	287633	TCTCTCCA others(631): Show TCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGAGCTCGC ACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGACAGA CCTCGCACCCTCTCTCTCCACCGACAGACCTCGCACTCTCTCTCCACCGA CAGACCTCGCACGCTCTCTCTCCACCGTCAGACCTCACACTCTCTCTCCA CCGTCAGACCTCACTCCCTCTCTCCACCGACAGACCTCACACTCTCTCTC CACCGACAGAGCTCACACTCTCTCTCCACCGTCAGACCTCACTCTCTCTC TCCACCGTCAGACCTCCCACCCTCTCTCCACCGTCAGACCTCGCACCCTC TCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACCTCACTC CCTCTCTCCACCGTCAGACCTCACTCCGTCTCTCCACCGTCAGACCTCGC ACCCTCTCTCTCCACCGTCAGACCTCACACCCTCTCTCCACCGTCAGACC TCACTCCCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGA CCTCGCACCCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGT CAGGCCTCACACCCTCTCTCCACCGTCAGACCTCACACC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02698.hp2 NA18612.hp1 others(8): Show HG01496.hp2 HG02698.hp2 NA18612.hp1 NA18951.hp1 NA18959.hp2 NA18963.hp2 NA18995.hp1 NA19003.hp1 NA19079.hp1 NA19088.hp2 NA20805.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0033 a0001c0001t0035 a0001c0004t0001 a0003c0005t0005 a0008c0010t0003	a0001c0001t0001g0024 a0001c0001t0002g0109 a0001c0001t0007g0098 others(8): Show a0001c0001t0001g0024 a0001c0001t0002g0109 a0001c0001t0007g0098 a0001c0001t0008g0042 a0001c0001t0012g0053 a0001c0001t0021g0077 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0004t0001g0050 a0003c0005t0005g0035 a0008c0010t0003g0084	11	129	0.0853	-638	c.352 others(17): Show c.352-6417_352-5780del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
TMEM63C_chr14_77176798_77264495	77182895	CCTTCAAC others(631): Show CCTTCAACAGCCTGCAGCGCTCCAGGAAGATGTGTTTTCCCTCAAGAAAG GGTCCATCTCTTAGCACCACCCTCTGTTATCACCTTATCCTTGTTCTCTC TCCGGCCCCTGTCCCTGGGAGAAATGGGCTACATTCCGTCTATTGCCCTT AGAAGTGAACTTTCCCCTTAGAAGTGAATTCACCTTGTTCTTCTCCCTGG GACAGATGACCTTCCCTGGAGGGAAACTGAGGCAAGGAGAGAGCGACATT TTAGAGCCAGAGCCAGATGAGGAAACTGAGGCACAGAGGGTGGAGTGAGT TCTCCAGGTATCTTACCTACATGCAGGTCTTCTGACTCCCCAGCCACCAA AGGGCAGACTGGAGGGGCCTCTTCCTGTCTTCTCTTCGCACCCCACAGTC CCAGCGCTGAGAAGCTGAGGCTGCAAGGGCCTCCTGATGGGTGTGGAGGA GGTCGGTGACAGGGAACAGCACCAGCATTTTCTCCTCCTTTAAGATATGT TTTCTAGTTTCTTGGGAAGGAAGCAGCTTGAAGACGGGAAGTGAAGTCTC TTGGTTACCTTCCCATCATGCCCCCACAGGGATACACAATTTCTGTGGGC CTATCGGAGCCAAAAACAGGCATCCCTCCTGCCCGAGTG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	320	0.0031	-638	c.-77 others(17): Show c.-77+1003_-77+1640del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZNF16_chr8_144925358_144955880	144946518	TCTGTGTC others(631): Show TCTGTGTCCTGCTGTGGGGCCTGTGTACTGCTGTGGGGCCTGTACCCTGC TGTGGGCCTGTGTCCTGCTGTGGGTCTGTATCCTGCTGTTGGGCTTGTGT CCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTACTGTGGGC CTGTACCCTACTGTGGGCCATACCCTGCTGTGGGCCCGTGTCCTGCTGTG GGGCCCGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGC TGTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTC CTGCTGTGGGCCTGTATCCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCT TGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGGGCCTGTACCCTGCTG TGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGGCCTGTGTCCTG CTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTGGGCCTGTAT CCTGCTGTTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTGCTGTGGGC CTGTACCCTACTGTGGGCCATACCCTGCTGTGGGCCTGTGTCCTGCTGTG GGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02896.hp2 others(5): Show HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG04204.hp1 NA18987.hp2 NA18995.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0101 a0001c0001t0001g0102	8	387	0.0207	-638	c.-9- others(13): Show c.-9-941_-9-304del	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1014305	ACGCCTCC others(630): Show ACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGT GTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGATGCCT CCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACC AGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAC TGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG TGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGC CTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCC ACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGA CAGACGGCGCCTCCACTGTGTGAGACCAGGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	37	0.0270	-637	c.73+ others(19): Show c.73+106372_73+107008del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
TENM2_chr5_166974029_168269157	167859819	TGGGAGGT others(630): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGTCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02622.hp2 HG02630.hp1 others(1): Show HG01943.hp2 HG02622.hp2 HG02630.hp1 HG03209.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0015 a0002c0020 others(1): Show a0001c0002 a0001c0015 a0002c0020 a0006c0013	a0001c0002t0013 a0001c0015t0002 a0002c0020t0026 others(1): Show a0001c0002t0013 a0001c0015t0002 a0002c0020t0026 a0006c0013t0004	a0001c0002t0013g0041 a0001c0015t0002g0051 a0002c0020t0026g0013 others(1): Show a0001c0002t0013g0041 a0001c0015t0002g0051 a0002c0020t0026g0013 a0006c0013t0004g0015	4	54	0.0741	-637	c.503 others(19): Show c.503-16100_503-15464del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATAD2_chr8_123314850_123401447	123314862	AGGCCAGC others(629): Show AGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCAGCCCCCATAAG CGCTAACTTAAGTTAGCGCTTATGGGTCAGCCCCCCGCCCCACCAGCCAC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGCATCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTC AGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCATCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCTTGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGTGGGGTCAGCCCCTCGCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	276	0.0036	-636	c.56 others(11): Show c.5636_*6271del	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		4987		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211792	TTTACTCT others(629): Show TTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCT CATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTT GTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTT TACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTC ATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC GTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTT GTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTT ACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCAT GTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTG ATATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTA CTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0113 a0001c0004t0002g0113	1	146	0.0068	-636	c.212 others(21): Show c.2123-34277_2123-33642del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
FOXP4_chr6_41541381_41607384	41604799	AAGACCAT others(629): Show AAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCACCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATGTCTGGTGCATAAT ATGCCCTCAATACATAATGGCTGTTAATAAAATGGAGTCCTGGGTGCCAG TCACCATAGGGGCTCAGAGGGACCTAAGTGCTTACTGGGGACCAGTGTAT CCTGGAAGACTCCCTGGAAGAGTTCTGGAGCTGAGGAGGGGAAATTTGGG TAGAAAGAGGGGAGAAGAAAGAACATTCTAGGCCTGCAGGGGAACTGAGA TGGAGCTTAGGGAAGGTTAATGTGGAAGAAAACAAAAAATTAAATGGAGG CAGCAGAGACAGAGGCCGAGGCAAGGAGGTCAACAGGGTCTTAGAAACCT GGCCCCGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCAAGGTGGGCGGATCACAAGGTCAGGAGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0015 a0001c0002t0008g0015	1	354	0.0028	-636	c.58 others(11): Show c.5864_*6499del	FOXP4	ENSG00000137166.18	transcript	ENST00000307972.10	protein_coding		2416		chr6	TogoVar
KCNIP4_chr4_20723606_21953772	21083631	ATTACCAG others(629): Show ATTACCAGAAGCTGGAAGGCAAGGAATGGATTGTCTCCTAAAGCCATTAA AAGGAATGTGACCCTATTGGCACCTTTAATTCTGGCTTCTGGCCTTCCTA ACTGAAGAGATAATAAATATCTATTGTGTTAAGCCAACAAGTTTGTGGTA GTTTCTTACAATAGTCACAGGAAACTAGCACAACTCTCTTCTTTGAAATT CTGGAATTGGCGGCAGGGGAAATTGCATGTAAAAGCACTGCATGTTTACC TCTGGCTCTGTGAAATCACAGGAAGTACAGTTAAATTCTAGGAAACACAG GGGCATTTTTACCTCTGCACAAATCTATAAAGCTCCTGAGGGTCCTGCAG TCTTTTTCCACCCTGATGTCTCCCAAGACAGCCTTCTGATTGCTGAGATA TAGCCTACATTGAATAGATATTTGTTGAGCAAATCAACCTGCTTCTGCTG TGGCTCCAGCAGGACTGGAACATTTCAGGAAAGAATAAAAGGTCATTTCT CCTGAGTTAAGTGTTAATTCTTGCTTTGAATGTCAGTGGCGTGCTAACAC CTGCTCTCACATGTATTTTAGGTCCATCAGCGTATCCTAACTAGAAGGCC TTGTGACTAGCAGAAAAGAAAATGTAGGTGAGCCATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	80	0.0125	-636	c.62- others(19): Show c.62-201558_62-200923del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
MYOM2_chr8_2040046_2150456	2085588	CGTGGCCC others(629): Show CGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTC TTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATC TCTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTG TCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCT GCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGAT CTCTGCGTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCG TGATCTCTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGT CATGATCTCTGCGTGGCCCCACTGTCATGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03927.hp1 HG02886.hp1 HG03927.hp1	a0001 a0066 a0001 a0066	a0001c0024 a0066c0130 a0001c0024 a0066c0130	a0001c0024t0002 a0066c0130t0001 a0001c0024t0002 a0066c0130t0001	a0001c0024t0002g0303 a0066c0130t0001g0358 a0001c0024t0002g0303 a0066c0130t0001g0358	2	395	0.0051	-636	c.164 others(17): Show c.1644+207_1644+842del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2003942	AGTTCTTT others(629): Show AGTTCTTTCCTGCATGCGTTCTTTCCTGCAGGCATTCTTTCCTGCAAGCG TTCTTTCCTGCATGCCTTCTTTCCTGCATGCCTTCTTTCCTGCATGCATT CTTTCCTGCATACTTTCCTGCAGGCGTTCTTTCCTGCATATGTTCTTTCC TGCGTGCCTTCTTTCCTGCGTGCCTTCCTTCCTGTGTGCCTTCTTTCCTG CATACGTTCTTTCCTGTGTGCCTTCTTTCCTGCGTGCCTCCTTTCCTGCA GGCGTTCTTTCCTGAATGTGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGG CGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATGCG TTCTTTCCTGCATGCGTTCTTTCCTGCAGGCGTTCTTTCCTGCATACGTT CTTTCCTGCGTGCCTTCTTTCCTGTGTGCCTTCTTTCCTGCAGGCGTTCT TTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTT CCTGCAGGCGTTCTTTCCTGAATATGTTCTTTCCTGCTTGCCTTCTTTCC TGCAGGCATTCTTTCCTGCAGGCATTATTTCCTGCATACGTTCTTTCCTG CATGCGTTCTTTCCTGCGTGCCTTCTCTTCTGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0008 a0001c0002t0006g0008	1	101	0.0099	-636	c.-15 others(19): Show c.-157-7231_-157-6596del	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
SDHA_chr5_213320_262082	258739	TCCGAGCA others(629): Show TCCGAGCATTACCGTGTGAGCTCCGCCCCCCGCCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCCCCTGCCAG AGCATTACTGTGAGCTCCTTCTCCTCTCAGAGCCTTGCCGTGAGCTCCGC CCTCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTG TGAGCTCCGCCTCCCGCCACAGCATTACCGTGTGAGCTCCGCCTCCCGTC AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAG CTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAG CATTACCGTGTGAGCTCCGCCTCCCGTCCGAGCATTACCGTGTGAGCTCC GCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATT ACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC CCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	257	0.0078	-636	c.23 others(11): Show c.2320_*2955del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1658		chr5	TogoVar
STK3_chr8_98449633_98830688	98743253	AAAAAAAA others(629): Show AAAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAG CTGGAGGCATCATACTACCTGACTTCAAACTATACTACAAGGCTACAGTA ACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAA CAGAACAGAGCCCTCAGAAATAATGCTTCATATCTACAACTATCTGATCT TTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAAT AAATGGTGCTGGGAAAACTGGCTAGCGACATGTAGAAAGCTGAAACTGGA TCCCTTCCTTACACTTTATACAAAAATTAATTCAAGATGGATTAAAGACT TAAACGTTAGACCTAAAACCATAACAACCCTAGAAGAAAACCTAGGCATT ACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAA AGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAA AGAACTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCT ACAAAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAAT ATCCAGAATCTACAATGAACTCAAACAAATTTACAAG	A A	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	168	0.0060	-636	c.351 others(17): Show c.351+5387_351+6022del	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	4/10			chr8	TogoVar
USP18_chr22_18145170_18182397	18171402	GGAGGATT others(629): Show GGAGGATTGCTTGAGCCCAGGAGTTCGAGACCAGCTTCAGCAACATAATG AGACCCCCGTCTCTCAAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTAGC ACAAACCTTTAGTCCCAGCTACTTGGGAGGCTGAGTTGGAGGATCACTTG AGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCTATCATTGTACTCCA GCCTGGGCAACAGCGCAAGACCCCGTCTCTAAAAACAAAACAAGAAAAAC TAAAAAAAAAAGACACAAATATCTTTTTTTCCATAGATTTGAAATGCTAC ATAACAAATTTTGTATTCCTGTATGTACGGGTCTATTTTTGGAGTGTCTC TTCTGTTTTATTGGTCTGTTTGGCTATTTATGCTCTAGAACCATGACATT TAGAAAATTAAGACCTGATAATATGTTACAATAGCTCCTATTATAACATG ATTTCTTTACCTACTTAGGCCGTATACATTTCATAGGATTCTCTTTTTCT TTCCTTCTAGTTCTTTTTATTTCTACCTGCAGATTCTGCCCAATGAAGTG TATTTAAAATTGTTTTTCACTTAAAAAAGACTTTTTTGACTGGATGCAGT GGGTCACGCCTGTAATCTCAGCTCTTTGGGAGGCCAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	374	0.0027	-636	c.891 others(16): Show c.891+493_892-1102del	USP18	ENSG00000184979.11	transcript	ENST00000215794.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
YAF2_chr12_42152104_42243248	42227896	CGCCTCTG others(629): Show CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCAG CCAGCCACCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGTCAGCCCTCCGCCCGGCCA GCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCTGGAGGGAGGT GGGGGTGTCGGCCCCCCGCCCGCGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCATCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCTCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCC CCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	372	0.0027	-636	c.152 others(17): Show c.152+9067_152+9702del	YAF2	ENSG00000015153.15	transcript	ENST00000534854.7	protein_coding	2/3			chr12	TogoVar
CPNE1_chr20_35621044_35669900	35633915	TGCCACTG others(628): Show TGCCACTGTACTCCAGCCTGGGCAACAAGAGCAAGATTCCGTCTCAAAAA AAAAAAAAAAAAAAAGGCCGGGGACGGTGGCTCAAGCCTGTAATCCCAGC ACCTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAAATTA GCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCCGAGAT GGCGCCACTGCACTCCAGCCTGGGGGACCGAGGTTGACTCTGTCACAAAA AAAAAAAAAAAAAAGTGAGGTCATATCACGCCTCTGCCTGAACCCTCTAG TACTTCCCATTTCCTACTGAGCTTAGAAAAACTCCAAACTTGGCCAGATA TGGTGGCTCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGT GAAACCCTGTCTCTACTAAAAATAAAAAAAATTAGCTGGTATGGTGGTGG GCGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGAATCGCTTGA ACCTGGCGGGTGGAGGTTGAAGTAAGCCGAGATCGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp2 NA21309.hp2 HG03195.hp2 NA18906.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0015 a0005c0006t0001g0041 a0005c0006t0001g0015 a0005c0006t0001g0041	3	270	0.0111	-635	c.1-1 others(12): Show c.1-1627_1-993del	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	1/15			chr20	TogoVar
MCC_chr5_113017106_113493453	113073899	GCCCACCG others(628): Show GCCCACCGCAGTTCAAGGAGACCTGCCTGCCTCTGTAGACTCCACCGCTG GGGGCAGGGCATAGCTGAACAAAAGGCAGCAGACAACTTCTGCAGACTTA AAAGTCCCTGTCTGACAGCTATGAAGAGAGCAGTGGTTCTCCCACCATGC AGTTTGAGCTCTGAGAATGGATAGACTGCCTCCTCAAGTGGGTCCCTGAC CCCTGAGTAGCCTAACTGGGAGACACCTCCCAGTAGGGGCCGACTGACAC CTCATACAGCTGGGTGCCCCTTTGATACGAAGCTTCCAGAGGAAGGATCA GGCAGCAACATCTGCCGTTCTGCAGTATTTGCTGTTCTGCAGCCTCCGCT GGTGATACCCACACAAACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAA CAGACCTGCAGCTGAGGGTCCTGACTATTAGAAGGAAAACTAACAAACAG AAAGGACATCCACACCAAAACCCCATCTGTACATCACCATCATCAATGAC CAAAGGTAGATAAAACCACAAAGATGGGGAGAAACCAGAGCAGAAAAGCT GAAAATTCTAAAAATCAGAGTGCCTCTTCTCCTCCAAAGGAAGACAGCTC CTCGCCAGCAATGGAACAAAGCTGGACAGAGAATGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0021 a0003c0031t0021	a0003c0031t0021g0003 a0003c0031t0021g0003	1	158	0.0063	-635	c.178 others(19): Show c.1785-3300_1785-2666del	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	11/18			chr5	TogoVar
TMEM71_chr8_132704941_132765582	132752702	CCACTGCA others(628): Show CCACTGCACTCCAGCCTGGGCACCATAGCAAAGACCCTGTATCTAAAGGA AGGAAGAAGAGAGAGAGAGAAAAAAAAAAGGGAGAGAGAGAAGGAAAGAA AGGAAGAAAGGAAGAAGGGAAGGAAGAAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAATCACATGGCCC TATAATTGAAAGGCAACCAAATTATTGTGAAAATGTTTCATAAATGCAAA GTTTCTTGAGGTGAGCTTTGGTGGAAGCCTGGTGACAATAGTAACAGAGC CATGTTGGAGAAAAGAATATGTTATGTGTTCTTTCTTCAAAACTGCTTGG TTTTTTTCCCTCTTTTCTCCCTTAAAAATTATTTCTCTTTGTCCTAAACC CCAGCTAATCTCACTGTGATTTTTGTGTATGTATGTCTGCCTCAGTAATT ATTTTATACATTACTGGAGGGCAGATACTGTAAGCCTAAAAAATGTTCAG TATGTAAATAAACTCAATGCCAGTTACTGAACGAAATCACCTGACAGGCT ATGGAAATCTGGTAAAACCTATGAAAATATATATTGTCTGAATATATTTG AATTCTTGGGGTGGTTTTTTGTGAATCAATTAACAG	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	376	0.0027	-635	c.102 others(16): Show c.102-1340_102-706del	TMEM71	ENSG00000165071.15	transcript	ENST00000677595.1	protein_coding	3/9			chr8	TogoVar
AGBL4_chr1_48527854_50028954	48603203	GGCTCATG others(627): Show GGCTCATGCCTGTAATCCCAGCTCTTTGGGAAGCTGAGGCAGGTGGATCA TGAGGTCAGGAGGTCGAGACAATCCTGGTCAACATGGTGAAACCCTGGCT CTACTAAAAATACAAAAATTAGCTGAGTGTGGTAGTGCATGCCTGTAATC CCAGCTACTGGGAAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGTCA AAGAATGCAGTGAGCCGAGATTGCGCCACAGCACTCCAGCCTCGCAACAG AGCAAGACTCCGTTTCAAAATAAAATAAATTAAAGTGTTTAGCACAGTTG AAGAGCAGGGGAGGGGACACAGAGGGGGGTGAGGAAACAGACTAGAGAGG CTTCCAAAGACCCTTACATGGAAGGCCTTGTAAGTCACTAAGGAGTCATG AATTTTCCCTATAAAACGGAAATAGAGAGCCACAGAAGTGTTTTATGAAA TTATAACAGGATTACATTTACATTTTAGCAAGATTGTTCTGGAGGCTGTG ACGAGAATTAGTGGTCATAAGACTCAAAGGCAGGTAGACTAGTTAGAACA TTTTTGTTATAATCCAAGTGAGAACTAATTTAAAAATGATAAGGTCCTCA ATTAAAGCAAGGGCTAGCTAGGACTGAGCGCGGTA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	104	0.0096	-634	c.952 others(19): Show c.952-12852_952-12219del	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	9/13			chr1	TogoVar
DOCK4_chr7_111721110_112211399	112043442	GTTACAGT others(627): Show GTTACAGTGTAGATAACCAAGACATTGCCTAAAATGTTAAAGGCAAGATT AAATCTCTATTAAAAAGACATCCATAAAGCTATTAATGGAGAGAATGAAG TGTCACAGAATCATGAATGTTAATGAAAAAGGCAGATAAGCCATTCTCAC AGAAAGCAATCAATTAAAAGAACACACTGTTCCAATAGAGCAGAGCATGC TACCAACCAATTACAAGCACCAGTAGATGCGAATGTCAGGGAATGAACAG GCAACCCTGGATAGAGGGGATTTGAGAATATTTGACCTCAATATGACTTC TCCATAGTATCTAAATACCCCCTAGATAAGCTAATTCTGGGTCCCAAGAA GTTGTAATGAAAGCTCATGGCTTCCACTCTGAAATAAGAATCTTAAAGAG GAAGCAATTGGAAGACTTTATTATTTTGCATCTGAGGTAGGAAAACTAAG TTTAAAGAAAAGACTTTCTGAAGATTTCCCAATGAGTGACTTAGAATAAT AATTATTAATAACAATAATAAATCATAGCTGCAGCTTCTCTTGGATAGCA CTTAACATAGTGACTTAAATGCTTTACTTATGTCCTGTCAATTAAGTTCC CAAGTACTCTGTGAGGTACATACTATTATTATCAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	106	0.0094	-634	c.38- others(17): Show c.38-39945_38-39312del	DOCK4	ENSG00000128512.24	transcript	ENST00000428084.6	protein_coding	1/52			chr7	TogoVar
ERC1_chr12_986223_1500931	1121995	ATCTCTAT others(627): Show ATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCT ATCTATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTAT CTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTAT CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCT ATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	142	0.0070	-634	c.156 others(19): Show c.1569+5964_1569+6597del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM53A_chr4_1634887_1689313	1679484	GAGACCAG others(627): Show GAGACCAGCCTGGCCAATGTGGTGAAACCCCATCTCTACTAAAACTACAA AAATTAGCCTGGCGTGGTGGCACGCACCTGTAATCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGC CAAGATAGCACCACTGCACTCCAGGCTAGGCAACAAGAGGGAAACTCCAT TAAAAAAAAAAAAAAAAAAAAGAACCCAACCCAACTAAAGAAAAAATTGG GGCAAAGACTTTCACAGACCCCTCACCAACTGGGGCCGGGTGTGGTGGCT CACGCCTATAATCCCAGCACTTTGGGAGACCGAGGCGGGTGGATCACCTG AGATCAGGAGTTCGAGACCAGCCTGGCCCACACATCGAAACCCCATCTCT ACTAAAAATACAAAATTTAGCTGGGCATGATGGCAGGCGCCTGTAAGCGC AGCTACTCGGGAGGATGAGGCGGCAGTTGCAGTGAGCCAAGATCGCACCA TTGCGCTCCAGCCTGAGCGACAGGGCAAGACTCCGTCTCAGAAAAAAAAA AAAAAGTCCGGGCACGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAG GCCGAGGCAGGTGGATCACCTGAGGTCAGGGTTCA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0129 a0001c0001t0037g0129	1	348	0.0029	-634	c.-16 others(19): Show c.-165+4115_-165+4748del	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
LMF1_chr16_848634_975984	960666	CACAGACT others(627): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAACACGGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGTGA CAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATC ACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACA CAGACTCACGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA20300.hp2 HG02145.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0072 a0001c0004t0001g0049 a0001c0004t0001g0072	2	292	0.0068	-634	c.194 others(17): Show c.194-6634_194-6001del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
MYOM2_chr8_2040046_2150456	2085544	CCCACTGT others(627): Show CCCACTGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCG TGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTC TGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGA TCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGT GATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAG TCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCC CCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGG CCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGC GTGGCCCCCCACTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCT CTGCGTGGCCCCCCACTGTTGTGATCTCTGCGTGG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0180 a0002c0019t0001g0180	1	336	0.0030	-634	c.164 others(17): Show c.1644+157_1644+790del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085708	CGTGATCT others(627): Show CGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCA CAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCC CCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGC CCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG TGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTT TGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGT GATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCACTG TTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGCCCC ACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCGTGGCC CCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTCCGCGTGGCCCC CCACAGTCGTGATCTCTGCGTGGCCCCCCACTGTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0075 a0075	a0075c0208 a0075c0208	a0075c0208t0001 a0075c0208t0001	a0075c0208t0001g0162 a0075c0208t0001g0162	1	380	0.0026	-634	c.164 others(17): Show c.1644+328_1644+961del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RX5_chr17_3668227_3701155	3685656	CTCCCAGC others(627): Show CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAG AACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACACACAGCGGGGCCCCCAGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	328	0.0030	-634	c.981 others(17): Show c.981+1722_981+2355del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
S1PR4_chr19_3173769_3185332	3173826	CCTCATGG others(627): Show CCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGAC ACCTGTGTTCTCATGGGACGCCTGTGCCCTCATGGGACGCCTGTGTTCTC ATGGGACGCCTGTGCCTCTCATGGGACACCTGTGTTCTCATGGGACGCCT GTGCCCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTTCTCATGG GACGCCTGCATTCTCATGGGACGCCTGTGCCCTCATGGGACACCTGTGTT CTCATGGGACACCTGTGTTCTCATGGGATGCCTGTGCCCTCATGGGATGC CTGTACCCCTCATGGGACGCCTGTGTTCTCATGGGATGCCTGTACCCTCA TGGGACGCCTGTACCCCTCATGGGACATCTGTGCCCTCATGGGATGCCTG TGCCCCTCATGGGATGCCTGTGCCCTCATGGGACGCCTGTGTTCTCATGG GATGCCTGTACCCTCATGGGACGCCTGTGCCCCTCATGGGATGCCTGTGT TCTCATGGGATGCCCGTGCCCCGCATGGGACGCCTGAATTCTCATGGGAC ACCTGTGCCCTCATGGGACACCTGTGTTCTCATGGGACGCCTGTGTTCTC ATGGGACACCTGTGCCCTCATGGGACGCCTGTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	-634	c.-49 others(11): Show c.-4966_-4333del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4942		chr19	TogoVar
SMO_chr7_129183633_129218545	129201247	ATGTTGGC others(627): Show ATGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATCCACCCGCCTC GGCCTCCCAAGTTCTGGGATTACAGGTTTGAGCCACCATGCCCAGCCGAC ACAACCTTTTTATTAACTGCCTGATGTTTCTCTAAAGCATTTTACTCCAG AGAGGTCCCCCCATTTTAAATATATTGTGCAATAAAAGTAAACATCCAGT AAAATTGACTTTTTCTTGTACAGTTCTAAGTTTAGACAAACACATAGACT TATGTAACCAGCCACCACATTGAATTCAAGATAGAGAATCGTCCTTTAAC CCCCATATATTCTCTCATGCTACTATTTTGTAGGCAAATCCTGCCCTCAC CCCAATCCCTGGCACCCACTGCTCTGTTTTCTGCAAGTACCTATGTACTC AGAATTTCTGGTGACTGTTTTTGGGTTTTTTGTTTTTTATTTTTTTGTTT TTGAGGCAGAGTCTCATTCTTTTGCCCAGGCTGGAGTGCAGTGGCGCCAT CTCAGCCCACCGCAACCTCCACCTCCTAGGTTCAAGCAATTCTGTTGCCT CAGCCTCCCGAGTAGCTGGGATTACAGGCATGTACCACCACGACCGGCTA ATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03669.hp2 HG02735.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0195 a0001c0001t0001g0139 a0001c0001t0001g0195	2	408	0.0049	-634	c.332 others(17): Show c.332-2118_332-1485del	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
TENM2_chr5_166974029_168269157	167859668	AGCCGCCC others(627): Show AGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGTCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0020 a0001c0003t0022g0020	1	54	0.0185	-634	c.503 others(19): Show c.503-16253_503-15620del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1888032	AGGGTGAG others(626): Show AGGGTGAGGGTTGTTAGGAGACAGTGAGTGGGATGAGGGTTTATGAGGAG ACACTAGGTAGGGTGAATGTTTTGAGGAGACACTTAGTGGGGTGAGGGTT TGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACAGTGAGTGGG GTGAGGGTTTGCGAGGAGACACTTAGTGGGGCGAGGGTTGCGAGGAGACA GTGAGTGTGGTGAGGGTTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCT GAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGA CTGTGAGGAGACACTGAGTGGGGTGAGGGTTGTGAGGAGATACTGAGGTG ATAGTTTTGAGGAGACAGTGGGGTGAGAGTTGTGAGGAGACACTGAGTGT GGAGGGCTGTGAGGAGGCACTGAGTGGGGTGAGGGGTATTGAGGAGACAC TGAGTGGGGTAAGAAGTCTGTGGAGATACTGAGTGGGGTGAGGGGTCTGT GAGGAGACGCTGAGTGGGGTGAGGTATGGGGAGACACTGAGTGGGGTGTG AGGGGTCTGTGAGGTGTCACTGAGTGTGGTGAGGTTTGTGAGGAAACACA GAGTGTGGTAAGGGTCCTGAGGAAACACTGAGTT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0100 a0001c0001t0038g0100	1	362	0.0028	-633	c.118 others(19): Show c.1182+2337_1182+2969del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNB4_chr2_151827771_152104044	151942042	AATGCTAT others(626): Show AATGCTATCTAGAACTCATCAAGACATTTAACAGAGTCATTCACAAGATG GTAAAACACAAACTGTGTGAACAGATAGATTCTCCAGTGCCTGAACAATC ACAGGATGCCTACCACTGTAACAAATACCAGGCTATCTAGATAGATCTAG ATCCATAGTTATCTAGAACTGTGCTGTGTTGCAGGAAGTCAGGGACCCCA AATGGAGGGACTGGCTGGAGCCGTGGCAGAGGAACATAAATTGTGAAGAT TTCATTTTAATATGGACATTTATCCGTTCCCAAATAATACTTTTATAATT TCTTATGCCTGTCTTATTTTAATCTCCTAATCCTGTTGTCTTCGTAAGCT GAGGATGTACATCACCTCAGGACCACTGTGATAATTGTGTTAACTGTACA AATTGATTGTAAAACATGTGTGTTTGAACAATATGAAATCAGTGCACCTT GAAAAAGAACAAAATAACAGCGATTTTTAGGGAACGAAGGAAGACAACCA TAAGGTCTGACTGCCTGCAGGGTCCGGCAAAAAGAGCCATATTTTTCTTC TTGCAGAGAGCCTATAAATGGACGTGCAATTATGGAAGATATTGCTAAAT TCTTTTCCTAGCAAGGAATATTAATATTAATACC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02145.hp1 others(27): Show HG00639.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0041 a0001c0002t0002 a0001c0002t0009 a0001c0003t0028 a0001c0005t0015 a0001c0006t0042	a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0226 others(27): Show a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0145 a0001c0001t0004g0078 a0001c0001t0004g0129 a0001c0001t0005g0092 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0011g0030 a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0018g0196 a0001c0001t0041g0079 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0146 a0001c0002t0002g0200 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0009g0044 a0001c0003t0028g0130 a0001c0005t0015g0199 a0001c0006t0042g0033	30	230	0.1304	-633	c.148 others(19): Show c.148-59305_148-58673del	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805791	CCTCAGCC others(626): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18959.hp1 NA18946.hp1 NA18959.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0166 a0003c0003t0001g0199 a0001c0001t0001g0166 a0003c0003t0001g0199	2	312	0.0064	-633	c.16 others(11): Show c.1626_*2258del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1505		chr2	TogoVar
JAM3_chr11_134064072_134157001	134093003	CCTTACAT others(626): Show CCTTACATGTCACTTCCTGAGGGAAGCTTCTCCTGAACCCTCCTTATTCA TCATGTTCCACCTTACATCTTATTCGTCATGTTCCATCTTACATGTCACT TCCTGAGGGAAGCTTCTCCTGAGCCCTCTTTATTCATCATGTTCTATCTT ACATGTCACTTCCTGAGGGAAGCTTCTCCTGAACCCTCCTTATTCATCAT GTTCCACCTTACATCTTATTCATCATGTTCCGTCTTACATGTCACTTCCT GAGGGAAGCTTCTCCTGAAACCTCCTTATTCGTCATGTTCCACCTTACAT CTTATTCATCTTGTTCCATCTTACATGTCACTCCCTGAGGGAAGCTTCTC CTGAGCCCTCCTTATTCATGTTCCACCTTACATCTTATTCATCATGTTCC ATCTTACATGTCACTCCCTGAGGGAAGCTTCTCCTGAAACCTCCTTATTC GTCATGTTCCACCTTACATCTTATTCATCATGTTCCATCTTACATGTCAC TCCCTGAGGGAAGCTTCTCCTGAGCCCTCCTTATTCATCATGTTCCACCT TACATGTCACTTCCTGAGGGAAGCGTGTCCTGAACCCTCCTTATTCATCA TGTTCCACCTTACATCTTATTCGTCATGTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(138): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0060 a0001c0001t0068 a0001c0005t0001 a0002c0003t0010 a0002c0003t0031 a0002c0003t0067 a0006c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(122): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0102 a0001c0001t0001g0150 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0010g0016 a0001c0001t0010g0268 a0001c0001t0010g0270 a0001c0001t0010g0272 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0010g0276 a0001c0001t0010g0277 a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0310 a0001c0001t0012g0333 a0001c0001t0012g0341 a0001c0001t0015g0278 a0001c0001t0015g0279 a0001c0001t0015g0282 a0001c0001t0015g0338 a0001c0001t0026g0280 a0001c0001t0026g0281 a0001c0001t0027g0294 a0001c0001t0027g0295 a0001c0001t0028g0291 a0001c0001t0028g0292 a0001c0001t0031g0266 a0001c0001t0033g0335 a0001c0001t0035g0057 a0001c0001t0041g0325 a0001c0001t0042g0327 a0001c0001t0043g0351 a0001c0001t0044g0313 a0001c0001t0045g0312 a0001c0001t0047g0339 a0001c0001t0048g0059 a0001c0001t0049g0293 a0001c0001t0060g0350 a0001c0001t0068g0269 a0001c0005t0001g0326 a0002c0003t0010g0026 a0002c0003t0010g0273 a0002c0003t0031g0271 a0002c0003t0067g0267 a0006c0007t0001g0340	141	388	0.3634	-633	c.76+ others(17): Show c.76+23880_76+24512del	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU4_chr2_241804193_241822413	241805791	CCTCAGCC others(626): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGAC CTAGGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC GCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18959.hp2 NA18946.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0027 a0001c0001t0001g0003 a0001c0002t0001g0027	2	316	0.0063	-633	c.-34 others(11): Show c.-3486_-2854del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3401		chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511020	TGTATATC others(626): Show TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACACATATATGTATATCTATATG TAACACACACATATATGTATATCTATATGTAACACACACATATATGTATA TCTATATGTAACACACACATATATGTATATCTATATGTAACACACACATA TATGTATATCTATATGTAACACACACATATATGTATATCTATATGTAACA CACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	236	0.0042	-633	c.894 others(17): Show c.894-7835_894-7203del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RORB_chr9_74492335_74698177	74531817	AGACTTTT others(626): Show AGACTTTTTTTTATAAAGACTGCTGTCTTCTTGCAGATGGGGTGCAGTTT ATCTGGAGGGGTGATGAATTCCTAGTCTTGAAATGCACAGTGTCAAAATC ATTGCCATTTAAAGTTACATCTTGAAAATTTTTCATCAGAATTAATGCTA CGTGATGTCTCAAGCCCTTGAAAAACCTTCAGTGTTTCTTTTTATCTAAG CTGACACACTGTCACTGTGAATAAAAATAAAAGAACATATAATGCTGTGG AATCATTTGCAATCAGAAATTTTGTTTCAAGCTTACCTATCCTTGATCAG CTATGATCTGTAGAGTCAATATTAATTTCTAAAAATTAAACGAATAGTAT TTATATAATTATTTCCTATGCTATTCTATACATAAGGGAAGTGACTAACA ATTCTGTTTCAACAGTCACATCACATAGATGTGTATATCTTTGAAGATCA TTCAAATCTAACACATTCTCCAGCTCTCCCCACTTTTTCTCAGTGATCAG TTCTGATATCCAGCTCCAAAGCACCACTCTAAGTTTCCCTTCCCACTCTC CTTCACTCCTCCTGATCTTTATTCCTCAAAAGCCTATTTTAGTCTTATTA CTACTACTAATCAGAGTGAAGAATCCAGTGCTAT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	224	0.0045	-633	c.7+3 others(15): Show c.7+33835_7+34467del	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9			chr9	TogoVar
TAF11L14_chr5_17629460_17640053	17639420	CCTTCATA others(626): Show CCTTCATACCTCTGGCTGCATGAGAAAAAGTAAAGCAGACAAAAACAAAC AAGCAAATAAACAAAAACCACACATACAAAAGGCCCTTATTTCAATACAC TATTAACAGGCTTCTCTGATACTTGTAGTAGAAATTTAATGCCCTTGTAT GCAATGCACAGACCATGCACAGAACAGGAAATCCAGTGATAATCAATATT CACAAAATAAGTTCACATTCCTGTTTTAAAAGGAGAGCTACTTTTGTAGA AAACCTTTAGGTTCACAGCAAAATTGGGCAGAAGGAACAGGGGTTCCCCG TATCCTCTTTCCCTACATCTGCATACCCCCTTCACTATCAACTTTCTGCC CCAGAGGGGCACATTGGCTACAGTCATTCAACCTACATGGACACATCTCT CTGACTCCAAGACCATAGCTCTCCTTAGGGATTCACTTGGGTGTTGTACA TTCTATGGACTCACGCAAAGGCAAAATTACATGTATCCACCGTTATTGTA TTCTATGGACTAGTTTCACCTCCATACAAATGCACTGTGTCCCGTCTATG CACTCCCCCTTCACCCTTGGTCTCTTGCAACCACTCAACTGTTGATTTAT TTATTTGTATTTAAAACAGGCACATCTCATTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	-633	c.43 others(11): Show c.4368_*5000del	TAF11L14	ENSG00000250782.1	transcript	ENST00000512227.1	protein_coding		4368		chr5	TogoVar

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