Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	442	0.0023	244	c.27 others(255): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACACATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	244	c.27 others(255): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	442	0.0023	244	c.27 others(255): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	442	0.0023	244	c.27 others(255): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(237): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0103 a0001c0001t0001g0001 a0001c0001t0001g0103	2	442	0.0045	244	c.27 others(255): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(237): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	256	0.0039	244	c.-45 others(265): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCT CCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61383620	A A	ATGATACG others(237): Show ATGATACGTATGAATATATATGATATATATGGATATATGATACGTATGAA TATATATCATATATGTATATATGATATGATATATATATGAATATATGATA TATATGAACATATATATGGATATTATGAATATATATGATATATATGAATA TATATGGATATATATGAATATATATGATATATGAATATATATGGATATAT ATGAATATATATGATTGATATATATCATATATGTATGCATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02809.hp1 HG02809.hp2 others(3): Show HG02630.hp1 HG02809.hp1 HG02809.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0003c0017 a0003c0018	a0001c0001t0009 a0001c0001t0051 a0001c0003t0053 others(3): Show a0001c0001t0009 a0001c0001t0051 a0001c0003t0053 a0001c0006t0049 a0003c0017t0002 a0003c0018t0045	a0001c0001t0009g0019 a0001c0001t0051g0083 a0001c0003t0053g0074 others(3): Show a0001c0001t0009g0019 a0001c0001t0051g0083 a0001c0003t0053g0074 a0001c0006t0049g0071 a0003c0017t0002g0053 a0003c0018t0045g0052	6	106	0.0566	244	c.169 others(265): Show c.169+128688_169+128689insCGTATGAATATATATGATATATAT GGATATATGATACGTATGAATATATATCATATATGTATATATGATATGAT ATATATATGAATATATGATATATATGAACATATATATGGATATTATGAAT ATATATGATATATATGAATATATATGGATATATATGAATATATATGATAT ATGAATATATATGGATATATATGAATATATATGATTGATATATATCATAT ATGTATGCATATATGTGATA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(237): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	388	0.0026	244	c.487 others(261): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(237): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	388	0.0026	244	c.487 others(261): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(237): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02622.hp2 HG03139.hp1 others(2): Show HG00639.hp2 HG02622.hp2 HG03139.hp1 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0221 a0001c0002t0004g0199 a0001c0002t0004g0200 others(2): Show a0001c0001t0004g0221 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0203	5	258	0.0194	244	c.403 others(259): Show c.403-623_403-622insCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20337382	A A	ATGGATAG others(237): Show ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0176 a0001c0024t0008g0176	1	236	0.0042	244	c.342 others(263): Show c.3423-4444_3423-4443insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGG ATAGATGGGTGGGTGGAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLEC1B_chr12_9988075_10004121	10002447	T T	TGACCAGA others(237): Show TGACCAGAAATATGCTGTAAGTACTTAGCTTTTGTTTATATCCATTAGCC TATGATCAAATTGGCTTTGCTCTACCTTGCTTCACCTAAGTCACAGTTTC TAAGAATCTATTAATTGATGACGTTAAGTGAGGACTTCCTGTGTTACCCG ATACATATTTGTTGAATGAGTGAAGCATATATGTATGACAGACATTATAA TCCCGATTTTGCATATGGGAAGAGAAGTTTAACTAATTTGAGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02970.hp1 HG02615.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0002c0002t0001g0011 a0001c0001t0001g0008 a0002c0002t0001g0011	2	462	0.0043	244	c.-33 others(255): Show c.-3348_-3347insTTGCTCAAATTAGTTAAACTTCTCTTCCCATATG CAAAATCGGGATTATAATGTCTGTCATACATATATGCTTCACTCATTCAA CAAATATGTATCGGGTAACACAGGAAGTCCTCACTTAACGTCATCAATTA ATAGATTCTTAGAAACTGTGACTTAGGTGAAGCAAGGTAGAGCAAAGCCA ATTTGATCATAGGCTAATGGATATAAACAAAAGCTAAGTACTTACAGCAT ATTTCTGGTC	CLEC1B	ENSG00000165682.15	transcript	ENST00000298527.11	protein_coding		3327		chr12	TogoVar
CLPTM1L_chr5_1312752_1350099	1333630	T T	TGAGGATA others(237): Show TGAGGATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGA CTACTGTATACACACGGGATGAGGATAAGGGGGGACTACTGTATACACAT TGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGG GGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTAGA CACACCGGATGAGGACAAGCGGGAACTACTGTATACACACCGGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	370	0.0027	244	c.891 others(259): Show c.891+658_891+659insTTCCGGTGTGTATACAGTAGTTCCCGCTTG TCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCC GTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAG TCCCCCTTATCCTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL18A1_chr21_45400165_45518720	45499520	G G	GCATGGCA others(237): Show GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCG TGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC GGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCA GAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAA CAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02257.hp1 HG02809.hp1 others(6): Show HG02080.hp2 HG02257.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 NA19005.hp2 NA19043.hp1 NA19057.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0027 a0036 a0037	a0001c0004 a0001c0035 a0002c0020 others(5): Show a0001c0004 a0001c0035 a0002c0020 a0004c0099 a0004c0100 a0027c0070 a0036c0048 a0037c0049	a0001c0004t0001 a0001c0035t0001 a0002c0020t0003 others(5): Show a0001c0004t0001 a0001c0035t0001 a0002c0020t0003 a0004c0099t0003 a0004c0100t0001 a0027c0070t0001 a0036c0048t0004 a0037c0049t0004	a0001c0004t0001g0290 a0001c0035t0001g0072 a0001c0035t0001g0073 others(6): Show a0001c0004t0001g0290 a0001c0035t0001g0072 a0001c0035t0001g0073 a0002c0020t0003g0156 a0004c0099t0003g0030 a0004c0100t0001g0039 a0027c0070t0001g0012 a0036c0048t0004g0184 a0037c0049t0004g0183	9	292	0.0308	244	c.268 others(263): Show c.2683+1895_2683+1896insGTGGGAACCCGCGTGGGCTGCCCCAC ATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTG GGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAG GAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGA GGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACA GTGGGGTCAGAGGCTCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45499520	G G	GCATGGCA others(237): Show GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTC GGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCA GAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAA CAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	292	0.0034	244	c.268 others(263): Show c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGAACCCGCGTGGG CTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGA ACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG CTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGT GGGGTCAGAGGCTCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL22A1_chr8_138583235_138919041	138806081	T T	TGTGTGTG others(237): Show TGTGTGTGAGATGGTGTAGTTAATGCTGTGTGATGTGTGTGTGAGATGGT GCGTGTGTGATGGCGTGTGTGTGATGGTGTAGGTAATGGTGTGTGGTGGT GTATGATTGTGTGTGAGGGTGTGTGTGATGGTGTGTGTAATGGTGTGTGA TGGTGTCTGATGGTGTAGGTTAATGGTGTGTGGTGGTGTATGTGTGTGAT GGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTAATGGTGTGTGATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02622.hp2 others(6): Show HG02055.hp1 HG02451.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG03225.hp2 HG03579.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0001c0017 a0001c0026 others(4): Show a0001c0012 a0001c0017 a0001c0026 a0002c0007 a0002c0009 a0002c0025 a0002c0052	a0001c0012t0001 a0001c0012t0002 a0001c0017t0007 others(5): Show a0001c0012t0001 a0001c0012t0002 a0001c0017t0007 a0001c0026t0001 a0002c0007t0008 a0002c0009t0001 a0002c0025t0004 a0002c0052t0002	a0001c0012t0001g0037 a0001c0012t0002g0059 a0001c0017t0007g0147 others(6): Show a0001c0012t0001g0037 a0001c0012t0002g0059 a0001c0017t0007g0147 a0001c0026t0001g0038 a0002c0007t0008g0030 a0002c0009t0001g0072 a0002c0009t0001g0104 a0002c0025t0004g0103 a0002c0052t0002g0058	9	158	0.0570	244	c.149 others(263): Show c.1494+1686_1494+1687insCATCACACACCATTACACACACCACA CACACACCACACACACACCATCACACACATACACCACCACACACCATTAA CCTACACCATCAGACACCATCACACACCATTACACACACCATCACACACA CCCTCACACACAATCATACACCACCACACACCATTACCTACACCATCACA CACACGCCATCACACACGCACCATCTCACACACACATCACACAGCATTAA CTACACCATCTCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138806081	T T	TGTGTGTG others(237): Show TGTGTGTGAGATGGTGTAGTTAATGCTGTGTGATGTGTGTGTGAGATGGT GCGTGTGTGATGGCGTGTGTGTGATGGTGTAGGTAATGGTGTGTGGTGGT GTATGATTGTGTGTGAGGGTGTGTGTGATGGTGTGTGTAATGGTGTGTGA TGGTGTGTGATGGTGTAGGTTAATGGTGTGTGGTGGTGTATGTGTGTGAT GGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTAATGGTGTGTGATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01070.hp1 others(38): Show HG00597.hp2 HG00639.hp1 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01261.hp1 HG01433.hp1 HG01891.hp2 HG01943.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03492.hp1 HG03516.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0013	a0001c0002 a0001c0006 a0001c0008 others(18): Show a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0015 a0001c0024 a0001c0026 a0002c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0023 a0002c0059 a0003c0020 a0003c0031 a0003c0033 a0004c0019 a0005c0061 a0006c0037 a0011c0043 a0013c0049	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(27): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0015t0002 a0001c0024t0016 a0001c0026t0001 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0008 a0002c0005t0001 a0002c0005t0009 a0002c0011t0012 a0002c0023t0001 a0002c0059t0001 a0003c0020t0007 a0003c0031t0004 a0003c0033t0002 a0004c0019t0001 a0005c0061t0001 a0006c0037t0008 a0011c0043t0001 a0013c0049t0006	a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 others(38): Show a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 a0001c0002t0002g0029 a0001c0002t0002g0043 a0001c0002t0007g0156 a0001c0006t0001g0054 a0001c0006t0001g0062 a0001c0006t0002g0064 a0001c0008t0001g0041 a0001c0008t0002g0026 a0001c0008t0002g0096 a0001c0008t0002g0133 a0001c0010t0001g0025 a0001c0010t0001g0027 a0001c0010t0001g0128 a0001c0010t0007g0155 a0001c0015t0002g0120 a0001c0024t0016g0158 a0001c0026t0001g0061 a0002c0003t0001g0020 a0002c0003t0001g0076 a0002c0003t0001g0084 a0002c0003t0001g0112 a0002c0003t0003g0001 a0002c0004t0001g0127 a0002c0004t0002g0088 a0002c0004t0008g0023 a0002c0005t0001g0074 a0002c0005t0009g0135 a0002c0011t0012g0139 a0002c0023t0001g0117 a0002c0059t0001g0051 a0003c0020t0007g0150 a0003c0031t0004g0031 a0003c0033t0002g0015 a0004c0019t0001g0130 a0005c0061t0001g0105 a0006c0037t0008g0067 a0011c0043t0001g0056 a0013c0049t0006g0078	41	158	0.2595	244	c.149 others(263): Show c.1494+1686_1494+1687insCATCACACACCATTACACACACCACA CACACACCACACACACACCATCACACACATACACCACCACACACCATTAA CCTACACCATCACACACCATCACACACCATTACACACACCATCACACACA CCCTCACACACAATCATACACCACCACACACCATTACCTACACCATCACA CACACGCCATCACACACGCACCATCTCACACACACATCACACAGCATTAA CTACACCATCTCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(237): Show GCGTGTCACCCACAGATACACGGCCCCCCATGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	348	0.0029	244	c.928 others(259): Show c.928-442_928-441insCATGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACA GATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(237): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0216 a0003c0003t0001g0216	1	346	0.0029	244	c.463 others(261): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(237): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0028 a0028	a0028c0028 a0028c0028	a0028c0028t0001 a0028c0028t0001	a0028c0028t0001g0189 a0028c0028t0001g0189	1	346	0.0029	244	c.463 others(261): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686120	C C	CTCCCTCC others(237): Show CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	346	0.0029	244	c.463 others(261): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCATCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686120	C C	CTCCCTCC others(237): Show CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02922.hp1 HG00741.hp2 HG02922.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0007c0007t0001 a0003c0003t0001 a0007c0007t0001	a0003c0003t0001g0177 a0007c0007t0001g0168 a0003c0003t0001g0177 a0007c0007t0001g0168	2	346	0.0058	244	c.463 others(261): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686122	C C	CCCTCCCT others(237): Show CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCC CTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG02258.hp1 HG03041.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0131 a0007c0007t0001g0178 a0007c0007t0001g0131 a0007c0007t0001g0178	2	346	0.0058	244	c.463 others(261): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCATCCCTCCCTTCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686122	C C	CCCTCCCT others(237): Show CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCC CTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0132 a0009c0010t0001g0132	1	346	0.0029	244	c.463 others(261): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCC CTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCATCCCTCCCTTCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(237): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATATATATATTTCTATATATATATATATATAT ATATTTCTATATATATATATATTTCTATATATATATATATTTCTATATAT ATATATTTCTATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01175.hp2 HG01074.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	370	0.0054	244	c.56 others(255): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATATATATATTTCTATA TATATATATATATATATATTTCTATATATATATATATTTCTATATATATA TATATTTCTATATATATATATTTCTATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATATTTCTATATATA TATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(237): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATATAT ATTTCTATATATATATATATTTCTATATATATATATATTTCTATATATAT ATATTTCTATATATATATATATTTCTATATATATATATTTCTATATATAT ATATTTCTATATATATATATATATTTCTATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	370	0.0027	244	c.56 others(255): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATATATATTTCTATATATATATATATTTCTATATATATATA TATTTCTATATATATATATTTCTATATATATATATATTTCTATATATATA TATTTCTATATATATATATTTCTATATATATATATATATTTCTATATATA TATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRLF2_chrX_1185490_1217649	1198215	C C	CCCAGGAA others(237): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTC CCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	167	0.0060	244	c.646 others(259): Show c.646+346_646+347insTAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTC CTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240923570	A A	AACCCAGC others(237): Show AACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCC ACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCC CCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	350	0.0029	244	c.488 others(259): Show c.488+931_488+932insCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACA CTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCC ACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCC CCACACTGACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923587	A A	AACCCGGC others(237): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGC CCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0027 a0027	a0027c0034 a0027c0034	a0027c0034t0002 a0027c0034t0002	a0027c0034t0002g0261 a0027c0034t0002g0261	1	350	0.0029	244	c.488 others(259): Show c.488+946_488+947insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGC CCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923587	A A	AACCCGGC others(237): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCC ACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCGGC CCCCCACACTGACCCGGCCCCCACACTGACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0263 a0001c0020t0002g0263	1	350	0.0029	244	c.488 others(259): Show c.488+946_488+947insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTGACCCAGC CCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923626	A A	AGTCCCCA others(237): Show AGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGTCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACAC TGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0252	1	350	0.0029	244	c.488 others(259): Show c.488+982_488+983insTCCCCACACTAACCCAGCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCACACT AACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCGGCCCCCACA CTGACCCGGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CCACACTGACCCGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80634516	T T	TGTGAAGA others(237): Show TGTGAAGACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	68	0.0147	244	c.257 others(265): Show c.2575-13055_2575-13054insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCGTGAAGACCATTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNS_chr17_3631760_3668103	3656381	C C	CCCCTGCC others(237): Show CCCCTGCCCTGCCCCTCCACCCCTCGCCAGTCCTCGCCCCTGGCCCTGCC ATGCCCTTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCC CCGCCAGCCCTCACCCCCTGCCATGCCCCTCCACCCCCCACCAGTCCTCA CCCCCTGGGGTCCTCACCCCTGCCCTGCCCCTCCACCCCTGCCAGTCCTC ACCCCCTGCCCTGCCCCACCACCCCTCGCCAGTCCTTACCCCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0231 a0001c0001t0023g0231	1	372	0.0027	244	c.462 others(259): Show c.462-105_462-104insCCTGCCCTGCCCCTCCACCCCTCGCCAGTC CTCGCCCCTGGCCCTGCCATGCCCTTCCACCCCCGCCAGCCCTCACCCCC TGCCATGCCCCTCCACCCCCGCCAGCCCTCACCCCCTGCCATGCCCCTCC ACCCCCCACCAGTCCTCACCCCCTGGGGTCCTCACCCCTGCCCTGCCCCT CCACCCCTGCCAGTCCTCACCCCCTGCCCTGCCCCACCACCCCTCGCCAG TCCTTACCCCCCAC	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(237): Show AATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	100	0.0100	244	c.292 others(263): Show c.2927-2128_2927-2127insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGATTTTTGTATTTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(237): Show ATATATATGTGTATATATATATATATATATATATGTGTGTATATATATAT ATATATATATATGTGTATATATATATATATATATGTGTATATATATATAT ATATATGTGTATATATATATATATATATATGTGTATATATATATATATAT ATATATGTGTATATATATATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	334	0.0030	244	c.290 others(259): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TGTGTGTATATATATATATATATATATATGTGTATATATATATATATATA TGTGTATATATATATATATATATGTGTATATATATATATATATATATGTG TATATATATATATATATATATATGTGTATATATATATATATATATATATA TATATGTGTATATATATATATATATATATATGTGTATATATATATATATA TATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(237): Show ATATATGTGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATGTGTATATATATATAT ATATATATGTGTATATATATATATATATATATGTGTATATATATATATAT ATATGTGTATATATATATATATATATATATATATGTGTATATATATATAT ATATATATATATGTGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0251 a0002c0002t0042g0251	1	334	0.0030	244	c.290 others(259): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TGTGTATATATATATATATATATATGTGTATATATATATATATATATATG TGTATATATATATATATATATGTGTATATATATATATATATATATATATA TGTGTATATATATATATATATATATATATGTGTATATATATATATATATA TATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(237): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp2 HG02647.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	2	292	0.0069	244	c.165 others(259): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGA GGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGA GGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGT GGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(237): Show ATATATAAAGTATATATTTATATAAATATATATTATATATAATATATATT ATATAAATATATATTATATATAATATATATTTATATAATATATATTATAT ATAATATATATTTATATAATATATATTTATAAAAATATATTTATATATAA TATATATTATATATAATATATTATATAAATATATATTATATAAAATATAT ATTTATATAAAAATGTATTATATTATATATTATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0046 a0001c0001t0008g0046	1	356	0.0028	244	c.539 others(261): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAAATATAT ATTATATATAATATATATTATATAAATATATATTATATATAATATATATT TATATAATATATATTATATATAATATATATTTATATAATATATATTTATA AAAATATATTTATATATAATATATATTATATATAATATATTATATAAATA TATATTATATAAAATATATATTTATATAAAAATGTATTATATTATATATT ATATAAATATATATTA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DDX51_chr12_132131594_132149319	132134884	G G	GCTCCTCC others(237): Show GCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCGCTACCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCAC CTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCC CACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0021 a0006c0011t0001g0021	1	334	0.0030	244	c.43 others(255): Show c.4387_*4388insGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAG CGGGCACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCA CACTCGGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGG AGGTAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACC GGGGCACACTCGGGAGGTGGGAGGAGGGGCACCGTGGGCACACTCGGGAG GTGGGAGGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		1709		chr12	TogoVar
DEAF1_chr11_639233_700222	665147	G G	GTCCTGGC others(237): Show GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	345	0.0029	244	c.150 others(263): Show c.1503+9388_1503+9389insGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	685805	C C	CAGGAGAT others(237): Show CAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAGTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCACGCCACTGCACTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	345	0.0029	244	c.805 others(259): Show c.805-843_805-842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCGTGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT ACTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	5/11			chr11	TogoVar
DHRS12_chr13_51762993_51809163	51775329	C C	CCTACATG others(237): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTACTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CAGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTCCT ACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTAC ATGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	420	0.0024	244	c.364 others(261): Show c.364-1296_364-1295insAATACATGTAGGAGAATACTGTAGAATA CATGTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAA TACTGTAGAATACATGTAGGAGAATACATGTAGGAGAATACTGTAGAATA CATGTAGGAGAATACTGTAGGAGAATACTGTAGAATACATGTAGGAGAAT ACTGTAGAGTACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATAC TGTAGAATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGAAGAA others(237): Show GGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GAAGGGAGAAGAAGGGAAGGGAGGGGAGAAGGGAGAAGAAGGGAAGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAAGGGAG GGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGA GAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	244	c.158 others(261): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCC GCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCC TTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTCCCCTCCCT TCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCC CCTCCCTTCTTCTTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DMRT1_chr9_836697_974090	876913	T T	TCTCAGAA others(237): Show TCTCAGAAGAGGCTGCCTCAGCCATGGTCCCACTTCCAGTTACATGTGTG TCCTCAGACTTGCTCAGAAGAGGCTGCCTCAACCATGGTCCCACTTCCAG TTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGCTGCCTCAGCCATGGT CCCACTTCCAGTTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGCTGCC TCAACCATGGTCCCACTTCCAGTTACATGTGTGTCCTCAGACTTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG03041.hp2 others(1): Show HG02572.hp2 HG02647.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0279 a0001c0001t0004g0236 a0001c0001t0007g0245 others(1): Show a0001c0001t0001g0279 a0001c0001t0004g0236 a0001c0001t0007g0245 a0001c0001t0009g0278	4	306	0.0131	244	c.539 others(263): Show c.539-16919_539-16918insACCATGGTCCCACTTCCAGTTACATG TGTGTCCTCAGACTTGCTCAGAAGAGGCTGCCTCAGCCATGGTCCCACTT CCAGTTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGCTGCCTCAACCA TGGTCCCACTTCCAGTTACATGTGTGTCCTCAGACTTGCTCAGAAGAGGC TGCCTCAGCCATGGTCCCACTTCCAGTTACATGTGTGTCCTCAGACTTGC TCAGAAGAGGCTGCCTCA	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGTCT others(237): Show GGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0066 a0066	a0066c0095 a0066c0095	a0066c0095t0001 a0066c0095t0001	a0066c0095t0001g0169 a0066c0095t0001g0169	1	170	0.0059	244	c.101 others(263): Show c.10135-951_10135-950insTCTGTCCCGGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGG GGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25106550	G G	GTACAGTA others(237): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03486.hp1 NA18950.hp2 others(1): Show HG01109.hp1 HG03486.hp1 NA18950.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0233 a0002c0002t0001g0190 a0002c0002t0001g0206 others(1): Show a0001c0001t0001g0233 a0002c0002t0001g0190 a0002c0002t0001g0206 a0002c0002t0001g0209	4	336	0.0119	244	c.19 others(255): Show c.1997_*1998insTATATATATATATATATGTATATGCATTTCTTTA ATCCTAATAGTTACAAAGGGTGGGAGGCAGATTGTTTCCAAAACTATATA TGTGTGTGTGTGTGCATGTTTAACCATACTTTATTAAACACTTTAATCTC AGCACTTTGGGAGGCCAAGAAAGGGGATTCCTCCCAAGGATCTCAGGACT CCAGGGATTGCTTGAGCCCTGGAGTTGGAGGCTGTAGTGAGCTATGGTTG CACTACTGTA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1738		chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157400290	C C	CGCCTTCG others(237): Show CGCCTTCGTGTACGCACTTGTATGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGACGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGTGC TCGTGTGTAGGGAGGTCTGAGCACGGGGGACGCCCGGGTCCCCGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0335 a0001c0001t0003g0335	1	372	0.0027	244	c.692 others(261): Show c.692-9484_692-9483insTGTAGGGAGGTCTGAACATGGGGGATGC CTGGGTCCCCGCGCCTTCGTGTACGTGCTCGTGTGTAGGGAGGTCTGAGC ACGGGGGACGCCCGGGTCCCCGTGCCTTCGTGTACGCACTTGTACGTAGG GAGGTCTGAGCATGGGGGATGCCTGGGTCCCCGCGCCTTCGTGTACGTGC TCGTGTGTAGGGAGGTCTGAGCACGGGGGACGCCCGGGTCCCCGTGCCTT CGTGTACGCACTTGTA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNM1_chr9_128198379_128260244	128201063	T T	TGGAAACC others(237): Show TGGAAACCATCCTGGCTAACACGGTGAAACCCTATCTCTACTAAAAATAC AAAACATTAGCCGGGCGTGGTGGCACGAGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCCAAGATCGCACCACTGCACTCTAGCCTGGGTAACAGAGCGAGATTCC GTCTCAAAAAACAAACAAACAAACAAAAAATACAAAAATTAGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	350	0.0029	244	c.-24 others(255): Show c.-2408_-2407insGGAAACCATCCTGGCTAACACGGTGAAACCCTAT CTCTACTAAAAATACAAAACATTAGCCGGGCGTGGTGGCACGAGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAG GTGGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCTAGCCTGGGTA ACAGAGCGAGATTCCGTCTCAAAAAACAAACAAACAAACAAAAAATACAA AAATTAGCTA	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding		2315		chr9	TogoVar
DOCK8_chr9_209865_470255	320273	G G	GGACCGAA others(237): Show GGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0092 a0004c0019t0001g0092	1	256	0.0039	244	c.827 others(261): Show c.827+3205_827+3206insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	320395	T T	TGACCGAA others(237): Show TGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTG GGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATC AGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03654.hp2 HG03831.hp2 others(2): Show HG02622.hp1 HG03654.hp2 HG03831.hp2 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0039 a0001 a0004 a0039	a0001c0003 a0001c0061 a0001c0067 others(2): Show a0001c0003 a0001c0061 a0001c0067 a0004c0019 a0039c0052	a0001c0003t0001 a0001c0061t0001 a0001c0067t0001 others(2): Show a0001c0003t0001 a0001c0061t0001 a0001c0067t0001 a0004c0019t0001 a0039c0052t0001	a0001c0003t0001g0097 a0001c0061t0001g0080 a0001c0067t0001g0006 others(2): Show a0001c0003t0001g0097 a0001c0061t0001g0080 a0001c0067t0001g0006 a0004c0019t0001g0091 a0039c0052t0001g0079	5	256	0.0195	244	c.827 others(261): Show c.827+3364_827+3365insTCAGAGATGGCTGGGCTCAAAACCTGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar

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