Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	216	c.-22 others(227): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(209): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	410	0.0024	216	c.-22 others(227): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC77_chr12_396644_447642	419452	A A	AGAGGGTA others(209): Show AGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCAC CCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTT CTGTGTGTGCTGGGAGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp2 HG02602.hp2 others(2): Show HG01168.hp1 HG01261.hp2 HG02602.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0282 a0001c0001t0001g0408 a0001c0001t0001g0409 others(2): Show a0001c0001t0001g0282 a0001c0001t0001g0408 a0001c0001t0001g0409 a0001c0001t0001g0410 a0001c0001t0009g0294	5	432	0.0116	216	c.413 others(231): Show c.413+826_413+827insCACACATAGCAGCACCCTCCATGTTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCTCTTCTGTGTGTGCTGGGAGTGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420346	A A	AAACACAC others(209): Show AAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG CTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0408 a0001c0001t0001g0408	1	432	0.0023	216	c.413 others(233): Show c.413+1712_413+1713insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGG GAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTACAG TGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCR6_chr6_167118096_167144141	167130970	G G	GGGCCCCC others(209): Show GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGACCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCT CCGGGACTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0360 a0001c0002t0002g0360	1	460	0.0022	216	c.-97 others(233): Show c.-97-5066_-97-5065insCCCCCCTCCCTCCGGGACTCCTCCCTCT GGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGG ACTCCTCCCTCTGGGACCCCCTCCCTCCGGGACTCCTCCCTCTGGGCCCC CCTCCCTCCGGGACTCCTCCCTCTGGGCCCCCCTCCCTCCGGGACTCCTC CCTCTGGGCCCCCCTCCCTCCGGGACTCCTCCCTCTGG	CCR6	ENSG00000112486.18	transcript	ENST00000341935.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(209): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	442	0.0023	216	c.27 others(227): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(209): Show TATATACACAAGTGTGTATATACGTATATACACACGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	442	0.0023	216	c.27 others(227): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAC GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDH13_chr16_82621969_83805640	83658072	G G	GCCATATC others(209): Show GCCATATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCATGT CCTCACCAGCAAGGTCCCATATCCTCACCAGCAAGGTCTCATGTCCTCAC CACCAGGTCCCATATCCTCACCAGCAAGGTCCCATGTCCTCACCACCAGG TCCCGTATCCTCACCAGCAAGGTCTCATGTCCTCACCACCAGGTCCCGTA TCCTCAGCAGCAAGGTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG02027.hp1 others(11): Show HG00438.hp1 HG00738.hp1 HG02027.hp1 HG02027.hp2 HG02698.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03669.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0020 a0001c0003t0004 a0001c0004t0030 a0001c0006t0031	a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0001t0005g0054 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0104 a0001c0001t0005g0054 a0001c0001t0018g0072 a0001c0001t0023g0021 a0001c0002t0001g0012 a0001c0002t0001g0025 a0001c0002t0001g0098 a0001c0002t0002g0032 a0001c0002t0020g0099 a0001c0003t0004g0003 a0001c0003t0004g0110 a0001c0004t0030g0102 a0001c0006t0031g0005	14	110	0.1273	216	c.110 others(237): Show c.1102-12714_1102-12713insATCCTCACCAGCAAGGTCTCATGT CCTCACCACCAGGTCCCATGTCCTCACCAGCAAGGTCCCATATCCTCACC AGCAAGGTCTCATGTCCTCACCACCAGGTCCCATATCCTCACCAGCAAGG TCCCATGTCCTCACCACCAGGTCCCGTATCCTCACCAGCAAGGTCTCATG TCCTCACCACCAGGTCCCGTATCCTCAGCAGCAAGGTCCCAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(209): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03942.hp2 HG02109.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0048 a0001c0001t0001g0097	2	388	0.0052	216	c.487 others(233): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPJ_chr13_24877279_24927861	24882005	G G	GATACATC others(209): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	440	0.0023	216	c.11 others(227): Show c.1171_*1172insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		273		chr13	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TTGTTTAA others(209): Show TTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAA CATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAATGTTTA ATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTTAA ATTAAATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAAT TAAACATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18906.hp2 HG02896.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0291 a0001c0001t0003g0292	2	336	0.0060	216	c.231 others(233): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACATTTAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACA	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP46_chr10_132803392_132947570	132935292	A A	AGCACCCA others(209): Show AGCACCCAAACCCACTGTGATCTCCTCACTCCCCTCGGCACCCAAACACA CTGTGATCTCCTCACTCCCCTCAGCACCCAAACACACTGCGATCTTCTCA TTCCCCTCAGCACCCAAACCCACTGTGATCTCCTCACTCCCCTCGGCACC CAAACACACTGCGATCTCCTCACTCCCCTCAGCACCCAAACACACTGTGA TCTCCTCACTCCCCTCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0072 a0010c0072	a0010c0072t0002 a0010c0072t0002	a0010c0072t0002g0004 a0010c0072t0002g0004	1	246	0.0041	216	c.756 others(231): Show c.756-431_756-430insCGAGGGGAGTGAGGAGATCACAGTGTGTTT GGGTGCTGAGGGGAGTGAGGAGATCGCAGTGTGTTTGGGTGCCGAGGGGA GTGAGGAGATCACAGTGGGTTTGGGTGCTGAGGGGAATGAGAAGATCGCA GTGTGTTTGGGTGCTGAGGGGAGTGAGGAGATCACAGTGTGTTTGGGTGC CGAGGGGAGTGAGGAGATCACAGTGGGTTTGGGTGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	7/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(209): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCAGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0040 a0040	a0040c0050 a0040c0050	a0040c0050t0001 a0040c0050t0001	a0040c0050t0001g0183 a0040c0050t0001g0183	1	216	0.0046	216	c.141 others(233): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCAGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(209): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(30): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp1 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02273.hp1 HG02738.hp1 HG03669.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18944.hp1 NA18960.hp1 NA18986.hp1 NA18995.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0029 others(4): Show a0001 a0003 a0029 a0035 a0044 a0045 a0046	a0001c0001 a0003c0004 a0003c0053 others(5): Show a0001c0001 a0003c0004 a0003c0053 a0029c0032 a0035c0038 a0044c0041 a0045c0056 a0046c0047	a0001c0001t0001 a0003c0004t0001 a0003c0053t0001 others(5): Show a0001c0001t0001 a0003c0004t0001 a0003c0053t0001 a0029c0032t0001 a0035c0038t0001 a0044c0041t0001 a0045c0056t0001 a0046c0047t0001	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 others(30): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0003c0004t0001g0067 a0003c0053t0001g0056 a0029c0032t0001g0205 a0035c0038t0001g0004 a0044c0041t0001g0096 a0045c0056t0001g0040 a0046c0047t0001g0049	33	216	0.1528	216	c.141 others(233): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(209): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTA ATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAAT ATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATAT TTAAGAAATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0047 a0047	a0047c0051 a0047c0051	a0047c0051t0001 a0047c0051t0001	a0047c0051t0001g0050 a0047c0051t0001g0050	1	216	0.0046	216	c.141 others(233): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAAATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966189	A A	ACTAATAT others(209): Show ACTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGC TAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTA ATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAAT ATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATAT TTAAGAGATATTAGCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02258.hp1 others(9): Show HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02647.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2 HG03579.hp1 NA20129.hp2 NA21309.hp1	a0005 a0012 a0028 others(2): Show a0005 a0012 a0028 a0030 a0031	a0005c0005 a0005c0015 a0012c0010 others(4): Show a0005c0005 a0005c0015 a0012c0010 a0012c0027 a0028c0068 a0030c0033 a0031c0034	a0005c0005t0001 a0005c0015t0001 a0012c0010t0001 others(4): Show a0005c0005t0001 a0005c0015t0001 a0012c0010t0001 a0012c0027t0001 a0028c0068t0001 a0030c0033t0001 a0031c0034t0001	a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0012 others(9): Show a0005c0005t0001g0006 a0005c0005t0001g0008 a0005c0005t0001g0012 a0005c0005t0001g0190 a0005c0015t0001g0131 a0012c0010t0001g0130 a0012c0010t0001g0132 a0012c0010t0001g0133 a0012c0027t0001g0005 a0028c0068t0001g0142 a0030c0033t0001g0016 a0031c0034t0001g0107	12	216	0.0556	216	c.141 others(233): Show c.1411-363_1411-362insGATATTAGCTGCTAATATTTAAGAGATA TTAGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATT AGCTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAG CTGCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGAGATATTAGCT GCTAATATTTAAGAGATATTAGCTGCTAATATTTAAGA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966284	T T	TGCTAATA others(209): Show TGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG CTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCT AATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAA TATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATA TTTAAGAAATATCAGCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0039 a0004c0003t0001g0039	1	216	0.0046	216	c.141 others(233): Show c.1411-217_1411-216insTATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATCAGCAGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP47_chrX_35914734_36390317	35966284	T T	TGCTAATA others(209): Show TGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTG CTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCT AATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAA TATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCTGCTAATA TTTAAGAAATATTAGCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01978.hp2 HG01993.hp1 others(8): Show HG01109.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02132.hp1 HG02135.hp1 NA18747.hp1 NA18945.hp1 NA18959.hp1 NA18967.hp1 NA19000.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0001 a0001c0001t0001 a0003c0004t0001 a0004c0003t0001	a0001c0001t0001g0026 a0003c0004t0001g0041 a0003c0004t0001g0044 others(8): Show a0001c0001t0001g0026 a0003c0004t0001g0041 a0003c0004t0001g0044 a0003c0004t0001g0059 a0004c0003t0001g0025 a0004c0003t0001g0037 a0004c0003t0001g0043 a0004c0003t0001g0045 a0004c0003t0001g0061 a0004c0003t0001g0062 a0004c0003t0001g0063	11	216	0.0509	216	c.141 others(233): Show c.1411-217_1411-216insTATTAGCTGCTAATATTTAAGAAATATT AGCTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAG CTGCTAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAATATTAGCT GCTAATATTTAAGAAATATTAGCAGCTAATATTTAAGAAATATTAGCTGC TAATATTTAAGAAATATTAGCTGCTAATATTTAAGAAA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	8/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP61_chr20_20047532_20365698	20296028	T T	TGCCTGCC others(209): Show TGCCTGCCTGCCTGCCTGCCTTCCTGCCTTCCCTTCCTCCCTCCCTCCCT ACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTC CTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTT TCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCC CATCCTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18966.hp2 HG00735.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0226 a0002c0002t0002g0159 a0002c0002t0001g0226 a0002c0002t0002g0159	2	236	0.0085	216	c.321 others(235): Show c.3217-2153_3217-2152insGCCTGCCTGCCTGCCTGCCTTCCTGC CTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCC TCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCC ATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTT CCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCTCCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CLEC10A_chr17_7069537_7085251	7077716	A A	ACCATCAA others(209): Show ACCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTC CATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAGTGCCCTCT CCTCCATTCCCATCAATCACTCCATCAGTGCCCTCTCCTCCATTCCCATC AATCACTCCATCAGTGCCCTCTCCTCCATTCCCATCAATCACTCCATCAG TGCCCTCTCCTCCATTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18948.hp2 NA18954.hp2 others(2): Show HG03098.hp2 NA18948.hp2 NA18954.hp2 NA18993.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0025 a0001c0002t0001g0038	5	458	0.0109	216	c.184 others(231): Show c.184+280_184+281insGAATGGAGGAGAGGGCACTGATGGAGTGAT TGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGGGAATGGAG GAGAGGGCACTGATGGAGTGATTGATGGGAATGGAGGAGAGGGCACTGAT GGAGTGATTGATGGGAATGGAGGAGAGGGCACTGATGGAGTGATTGATGG GAATGGAGGAGAGGGCACTGATGGAGTGATTGATGG	CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	3/8			chr17	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(209): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCAACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0124 a0002c0001t0002g0124	1	346	0.0029	216	c.360 others(233): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTTGGGGAGGTGCCGTGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202393	A A	ACCCTCCT others(209): Show ACCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCC ATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTC CCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTC CTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCAC GGCACCTCCCGCACCAC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0051 a0001c0002t0003g0051	1	346	0.0029	216	c.360 others(233): Show c.3601-901_3601-900insGTGGTGCGGGAGGTGCCGTGGATGGCGG AAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTG GGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTG GATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAG GGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CNST_chr1_246561456_246673595	246620442	C C	CGTGCATA others(209): Show CGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACGGCTTCA TCGTGGTGCATACACACGATGGGCTCTGGGCACACTACAGGGAGGACGGC TTCAGTCGTGCATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGA CGGCTTCAGTCGTGCATACACACGATGGGCTCTGGGCACACTCTACAGGG AGGACGGCTTCATCGTG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0040 a0003c0003t0001g0040	1	320	0.0031	216	c.380 others(231): Show c.380-908_380-907insCACACTACAGGGAGGACGGCTTCAGTCGTG CATACACACGATGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGT CGTGCATACACACGATGGGCTCTGGGCACACTCTACAGGGAGGACGGCTT CATCGTGGTGCATACACACGATGGGCTCTGGGAACACTACAGGGAGGACG GCTTCATCGTGGTGCATACACACGATGGGCTCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTNAP5_chr2_124020287_124926219	124860416	C C	CTTCCTTC others(209): Show CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC CTTCCTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18906.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0053 a0001c0001t0001g0002 a0001c0001t0004g0053	2	64	0.0313	216	c.321 others(235): Show c.3218-4883_3218-4882insTTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTC CTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTC	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL18A1_chr21_45400165_45518720	45502084	G G	GCTTCAAA others(209): Show GCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTTCAAAGCCGGT CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC CTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCA GAAGGACCCTCAGGGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	292	0.0034	216	c.268 others(235): Show c.2684-1925_2684-1924insTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CTCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGG GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCAC AGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502111	A A	AGAAGGAC others(209): Show AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCC ACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCCTCCGCAGCC GGTCACCTCCCTCTGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	292	0.0034	216	c.268 others(235): Show c.2684-1891_2684-1890insTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGA CCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAG GGGCCTCCGCAGCCGGTCACCTCCCTCTGCCGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098500	T T	TAGATATA others(209): Show TAGATATAAATAGATATAAATAGATATATAAATACATATATAAATAGATA TAAATACATATATAAATATATAAATATATATAAATATATAAATACATATA TAAATATATAAATATATATAAATATATAAATACATATATAAATATATAAA TATATATAAATATATAAATACATATGTAAATATATAAATATATATAAATA TATAAACACATATGTAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0054 a0001c0001t0008g0054	1	264	0.0038	216	c.181 others(235): Show c.1812+2971_1812+2972insTTACATATGTGTTTATATATTTATAT ATATTTATATATTTACATATGTATTTATATATTTATATATATTTATATAT TTATATATGTATTTATATATTTATATATATTTATATATTTATATATGTAT TTATATATTTATATATATTTATATATTTATATATGTATTTATATCTATTT ATATATGTATTTATATATCTATTTATATCTATTTATATCT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255845	G G	GAAGGGGG others(209): Show GAAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0022 a0004c0022	a0004c0022t0001 a0004c0022t0001	a0004c0022t0001g0012 a0004c0022t0001g0012	1	344	0.0029	216	c.85- others(233): Show c.85-13112_85-13111insTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385587	G G	GCCGTGGT others(209): Show GCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGC CGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCG TGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTG GTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGC TGCAGTGTGTGGATAGA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0295 a0002c0017t0002g0295	1	372	0.0027	216	c.180 others(235): Show c.180+28065_180+28066insTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCTGCAGTG TGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202846	C C	CATATGTG others(209): Show CATATGTGTATATATGTGTATATATGTGTATATATACGTATATATACATA TATGTGTATATATACGTATATATACATATATGTGTATATATACGTATATA TACATATATGTGTATATATACGTATATATACATATATGTGTATATATACG TATATATACATATATGTGTATATATACGTATATATACATATATGTGTATA TATACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0023 a0023	a0023c0046 a0023c0046	a0023c0046t0001 a0023c0046t0001	a0023c0046t0001g0313 a0023c0046t0001g0313	1	344	0.0029	216	c.88- others(233): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACGTATATATACATATATGTGTATATATAC GTATATATACATATATGTGTATATATACGTATATATACATATATGTGTAT ATATACGTATATATACATATATGTGTATATATACGTATATATACATATAT GTGTATATATACATATATGTGTATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(209): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CATATATGTGTATATATGTGTATATATACATATATGTGTATATATACACA TATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02071.hp1 others(8): Show HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02155.hp1 HG02602.hp1 HG04115.hp2 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA19063.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0009	a0001c0001 a0003c0002 a0003c0011 others(2): Show a0001c0001 a0003c0002 a0003c0011 a0008c0009 a0009c0008	a0001c0001t0002 a0003c0002t0001 a0003c0002t0003 others(3): Show a0001c0001t0002 a0003c0002t0001 a0003c0002t0003 a0003c0011t0001 a0008c0009t0001 a0009c0008t0001	a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0180 others(8): Show a0001c0001t0002g0082 a0001c0001t0002g0118 a0001c0001t0002g0180 a0001c0001t0002g0236 a0003c0002t0001g0229 a0003c0002t0003g0089 a0003c0002t0003g0171 a0003c0002t0003g0237 a0003c0011t0001g0260 a0008c0009t0001g0275 a0009c0008t0001g0265	11	344	0.0320	216	c.88- others(233): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACATATATGTGTATATATGTGTATATATAC ATATATGTGTATATATACACATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL9A3_chr20_62812050_62846159	62825082	A A	AGGGAGAG others(209): Show AGGGAGAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0301 a0001c0006t0001g0301	1	412	0.0024	216	c.630 others(229): Show c.630+66_630+67insAGGCTGGGCTCCGGCGGGAGGGAGAGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(209): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGG GCTGGGCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03041.hp2 others(4): Show HG01891.hp1 HG02559.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0002 a0001c0004t0001 a0001c0007t0002	a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 others(3): Show a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0001g0111 a0001c0007t0002g0011 a0001c0007t0002g0070	7	412	0.0170	216	c.630 others(231): Show c.630+156_630+157insGGGGAGGGGCTGGGCTCCGGCGGGGGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGC TGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COMMD10_chr5_116080025_116298287	116129406	T T	TATGTAAT others(209): Show TATGTAATATACATTAGTATATATATACTATATACTAATGTAATATACAT TAGTATATATATACTATATACTAATGTAATATACATTAGTATATATATAC TATATATACTAATGTAATATACATTAGTATATATATACTATATACTAATG TAATATACATTAGTATATATATACTATATACTAATGTAATATACATTAGT ATATATACTATATACTA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	350	0.0029	216	c.400 others(233): Show c.400-4557_400-4556insTACTAATGTAATATACATTAGTATATAT ATACTATATACTAATGTAATATACATTAGTATATATATACTATATACTAA TGTAATATACATTAGTATATATACTATATACTAATGTAATATACATTAGT ATATATATACTATATACTAATGTAATATACATTAGTATATATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(209): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGT GTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATT TTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG03130.hp1 others(1): Show HG02055.hp1 HG02258.hp2 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0227 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0227	4	372	0.0108	216	c.-70 others(225): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGC TAATTTTTGTATTTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(209): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG TGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 NA18522.hp1 HG02647.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0225 a0001c0001t0001g0216 a0001c0001t0001g0225	2	372	0.0054	216	c.-70 others(225): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGG CTAATTTTTGTATTTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587781	G G	GCCCCCGT others(209): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0307 a0002c0004t0002g0307	1	348	0.0029	216	c.927 others(231): Show c.927+710_927+711insGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCACAGATACACGGCCCCCCCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(209): Show GCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTCACC CACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	348	0.0029	216	c.928 others(231): Show c.928-454_928-453insAACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCACAGA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597780	C C	CCCACCCA others(209): Show CCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATC TGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTCCATCCA TCCCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCCGTC CACCCATCCGTCCATCCATCCCCCCGCCCACCCATCCGTCCACCCATCCC CCCGCCCACCCATCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0134 a0001c0002t0004g0134	1	348	0.0029	216	c.11 others(227): Show c.1159_*1160insCCACCCATCTGTCCACCCATCCGTCCATCCATCC CCCCACCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCGTCCATCCATCCCCCCGCCCACCCATCCGTCCACCCATCCCCCC GCCCACCCATCCGTCCACCCATCCGTCCATCCATCCCCCCGCCCACCCAT CCGTCCACCCATCCCCCCGCCCACCCATCCGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		535		chr16	TogoVar
CR1L_chr1_207640133_207728703	207686134	C C	CCCTCCCT others(209): Show CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCT TCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0129 a0007c0007t0001g0129	1	346	0.0029	216	c.463 others(233): Show c.463+2180_463+2181insCCCTCCCTCCTTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCATCCCTCCCTTCCTCCCTCCCTTCCTTCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(209): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCCGGGT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0050 a0009c0022t0001g0050	1	324	0.0031	216	c.101 others(233): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCCACCCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(209): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCC TCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	324	0.0031	216	c.101 others(233): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTC CCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT CCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(209): Show ATATATATATATATATATATATATATTTCTATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	370	0.0027	216	c.56 others(227): Show c.5645_*5646insTATATATATATATATATATATATATTTCTATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(209): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATATTTCTATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	370	0.0027	216	c.56 others(227): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATATTTCTATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(209): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATTT CTATATATATATATATATATATATTTCTATATATATATATATATTTCTAT ATATATATATATTTCTATATATATATATTTCTATATATATATATTTCTAT ATATATATATTTCTATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 NA19078.hp2 HG01081.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0356 a0001c0001t0001g0302 a0001c0001t0001g0356	2	370	0.0054	216	c.56 others(227): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATTTCTATATATATATATATATATATATTTCTATATATA TATATATATTTCTATATATATATATATTTCTATATATATATATTTCTATA TATATATATTTCTATATATATATATTTCTATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRTC3_chr15_90524923_90650345	90647237	C C	CCCTCCTC others(209): Show CCCTCCTCCTCAATCCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCT CCACCTCTACACCCACTGCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCCTCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCC TCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTGCTCCTCCACAA TCCTCCTCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	276	0.0036	216	c.50 others(227): Show c.5097_*5098insCCTCCTCCTCAATCCTCCTCCACACCCCTCCAAA TTCCACAGCCCTCCTCCACCTCTACACCCACTGCTCCTCCACAATCCTCC TCCACACCCCTCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCAAT CCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCC ACTGCTCCTCCACAATCCTCCTCCACACCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1893		chr15	TogoVar
CSF2RA_chrX_1263814_1314935	1296952	G G	GTCTCCTA others(209): Show GTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTAT TCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGG AACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCT ACTCACGACCCCTACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02257.hp2 others(2): Show HG01123.hp1 HG02109.hp2 HG02257.hp2 HG02559.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0005 a0002c0004t0005 a0002c0004t0007 a0001c0002t0005 a0002c0004t0005 a0002c0004t0007	a0001c0002t0005g0123 a0002c0004t0005g0125 a0002c0004t0005g0127 others(2): Show a0001c0002t0005g0123 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0004t0005g0130 a0002c0004t0007g0152	5	159	0.0315	216	c.810 others(233): Show c.810+1518_810+1519insAGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATT CAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGA ACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTA CTCACGACCCCTACACTCTCCTACCCATGACCCCTGGC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297266	C C	CTACAGTC others(209): Show CTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGG AGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCC CCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCT GGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCAT GACCCCTGGCGGAACTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0134 a0001c0002t0005g0135	2	159	0.0126	216	c.810 others(233): Show c.810+1846_810+1847insTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAG TCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAAC TGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297579	G G	GTCTCCTA others(209): Show GTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAG CCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCAGTGGAACCCTA CAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACG ACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCT ACTCACGACCCCTACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	159	0.0063	216	c.810 others(233): Show c.810+2131_810+2132insTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CAGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAG TCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAAC CCTACAGTCCCCTACTCACGACCCCTACACTCTCCTAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297660	T T	TAACCCTA others(209): Show TAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCC TACTCACAACCCCCGGTGGAACCCTACAGTCTCCTACCCATGACCCCTGG TGGAACCCTACAGTCCCCTACTCACAACCCCTACACTCTCCTACCCATGA CCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTA CCCATGACCCCTGGCAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	159	0.0063	216	c.810 others(233): Show c.810+2221_810+2222insTTCAGGAGCCGTAGTGTGACCCTACAAT CCCCTACTCACAACCCCCGGTGGAACCCTACAGTCTCCTACCCATGACCC CTGGTGGAACCCTACAGTCCCCTACTCACAACCCCTACACTCTCCTACCC ATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCT CCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar

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