Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDH4_chr20_61247261_61945617	61656276	GGTGGGCA others(73): Show GGTGGGCAGGCGCGTGCTGGGGTGGGTAGGCACGTGCTGAAGTGGGCAGG CGCGTGCTGGGGTGGGTAGGCGCGTGCTGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02451.hp1 others(4): Show HG01243.hp1 HG01255.hp2 HG02451.hp1 HG02809.hp2 HG02895.hp1 HG03209.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0004 others(2): Show a0001c0001 a0001c0007 a0002c0004 a0002c0014 a0003c0018	a0001c0001t0018 a0001c0001t0028 a0001c0007t0010 others(4): Show a0001c0001t0018 a0001c0001t0028 a0001c0007t0010 a0001c0007t0046 a0002c0004t0003 a0002c0014t0003 a0003c0018t0045	a0001c0001t0018g0031 a0001c0001t0028g0016 a0001c0007t0010g0044 others(4): Show a0001c0001t0018g0031 a0001c0001t0028g0016 a0001c0007t0010g0044 a0001c0007t0046g0066 a0002c0004t0003g0011 a0002c0014t0003g0090 a0003c0018t0045g0052	7	106	0.0660	-80	c.170 others(99): Show c.170-87261_170-87182delTAGGCACGTGCTGAAGTGGGCAGGCG CGTGCTGGGGTGGGTAGGCGCGTGCTGAAGTGGGCAGGCGCGTGCTGGGG TGGG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61944120	ACCGTGGC others(73): Show ACCGTGGCCGCCCCTTCTCACTGACGATGCACCGTGGCCGCCCCTTCTCA CCGACGACGAGGAGCACTGCGACCGTCTGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01099.hp1 others(9): Show HG00423.hp2 HG00639.hp1 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG02040.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG03516.hp2 HG03540.hp2 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0004c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 a0002c0004t0003 a0002c0008t0001 a0004c0025t0011	a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0057 others(9): Show a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0018g0031 a0001c0001t0019g0091 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0004t0003g0093 a0002c0008t0001g0028 a0004c0025t0011g0099	12	106	0.1132	-80	c.71 others(91): Show c.7178_*7257delCCGTGGCCGCCCCTTCTCACTGACGATGCACCGT GGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3504		chr20	TogoVar
CDHR2_chr5_176544342_176600824	176592120	GTGATGGT others(73): Show GTGATGGTGATGGTGGTGATGATGGTGATGATGACAATGATGATGGTGGT GGTGGTGTTGGTGTTGAGGTGATGATGGTGC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0285 a0001c0004t0001g0285	1	344	0.0029	-80	c.373 others(97): Show c.3735-523_3735-444delCTGATGGTGATGGTGGTGATGATGGTGA TGATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATGATGG TG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDK2AP1_chr12_123255976_123276856	123275013	AGGGGCTG others(73): Show AGGGGCTGAGGTGCTGAGGGGCTGAGGTGCTGAGGGGCTGAGGGGCTGGG GTGCTGAGGGGCTGAGGTGCTGAGGGGCTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG03239.hp1 NA19056.hp2 HG01943.hp1 HG03239.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128	3	328	0.0092	-80	c.-34 others(91): Show c.-3475_-3396delCCAGCCCCTCAGCACCTCAGCCCCTCAGCACCCC AGCCCCTCAGCCCCTCAGCACCTCAGCCCCTCAGCACCTCAGCCCC	CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding		3158		chr12	TogoVar
CELF1_chr11_47460937_47558132	47541713	AGAAAGAA others(73): Show AGAAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAAAGAACGAAAG AAAGAACGAAAGAAAGAACGAAAGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG01071.hp2 others(11): Show HG00597.hp1 HG00642.hp1 HG01071.hp2 HG01361.hp1 HG01943.hp2 HG01975.hp1 HG02148.hp2 HG02965.hp2 NA18944.hp1 NA18945.hp2 NA18963.hp2 NA18981.hp2 NA18986.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0330 a0001c0001t0002g0077 a0001c0001t0002g0307 others(11): Show a0001c0001t0001g0330 a0001c0001t0002g0077 a0001c0001t0002g0307 a0001c0001t0003g0023 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0298	14	340	0.0412	-80	c.-15 others(101): Show c.-154+11199_-154+11278delGTTCTTTCTTTCGTTCTTTCTTTC GTTCTTTCTTTCGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTT TCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CENPVL3_chrX_51612020_51623912	51621585	TTCTTCTT others(73): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	-80	c.-27 others(91): Show c.-2792_-2713delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding		2674		chrX	TogoVar
CEP192_chr18_12986362_13130036	13106403	CACTCACC others(73): Show CACTCACCACTGCCATCACCATTTCCCACACAACCCTCAATTACAACCAC ACCCCACAGAACTACCACCACCACTACCACT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0269 a0001c0044t0001g0269	1	392	0.0026	-80	c.704 others(99): Show c.7047+1350_7047+1429delCACACAACCCTCAATTACAACCACAC CCCACAGAACTACCACCACCACTACCACTACTCACCACTGCCATCACCAT TTCC	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	40/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CERCAM_chr9_128415857_128442347	128437801	ATATATAC others(73): Show ATATATACATATATACGTGTATATACACGTATATACACATACACGTATAT ACACGTATATACACATACACGTATATACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02602.hp1 HG00639.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0118 a0001c0001t0001g0001 a0001c0001t0001g0118	2	400	0.0050	-80	c.95 others(90): Show c.954_*1033delTATATACATATATACGTGTATATACACGTATATAC ACATACACGTATATACACGTATATACACATACACGTATATACACG	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		455		chr9	TogoVar
CERCAM_chr9_128415857_128442347	128437814	TACGTGTA others(73): Show TACGTGTATATACACGTATATACACATACACGTATATACACGTATATACA CATACACGTATATACACGTATATACACATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00609.hp2 others(22): Show HG00140.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00738.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG02040.hp2 HG03490.hp2 HG03492.hp1 NA18944.hp2 NA18950.hp1 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA19056.hp1 NA19062.hp1 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(15): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0047 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0218 a0001c0002t0001g0053	25	400	0.0625	-80	c.96 others(90): Show c.967_*1046delACGTGTATATACACGTATATACACATACACGTATA TACACGTATATACACATACACGTATATACACGTATATACACATAC	CERCAM	ENSG00000167123.20	transcript	ENST00000372838.9	protein_coding		468		chr9	TogoVar
CFAP299_chr4_80330730_80968750	80800499	ATATATTA others(73): Show ATATATTATATAATATATAATATATAATATATTATATAATATATAATATA TCAATATATTATATAATATATTAATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG06807.hp2 HG02922.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0002 a0001c0001t0001 a0001c0009t0002	a0001c0001t0001g0018 a0001c0009t0002g0015 a0001c0001t0001g0018 a0001c0009t0002g0015	2	96	0.0208	-80	c.334 others(99): Show c.334-69493_334-69414delTATATTATATAATATATAATATATAA TATATTATATAATATATAATATATCAATATATTATATAATATATTAATAT AAAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5			chr4	TogoVar
CFAP46_chr10_132803392_132947570	132881616	GCACCCTC others(73): Show GCACCCTCCGCAGCCCTGCGAGCCGGGGTTAGCCTGCACCGCACCCTCCG CAGCCCTGCGAGCCGGGGTTAGCCTGCACCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	246	0.0041	-80	c.362 others(97): Show c.3628-664_3628-585delTGGTGCAGGCTAACCCCGGCTCGCAGGG CTGCGGAGGGTGCGGTGCAGGCTAACCCCGGCTCGCAGGGCTGCGGAGGG TG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	27/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132943626	GACCCCCT others(73): Show GACCCCCTGAGAGAGGACCGCCTGGGAGAGGCCCACCTGGGAGAGTGGAA TTCCACCCAGGAGAGGCCCACCTGGGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0020 a0020	a0020c0024 a0020c0024	a0020c0024t0001 a0020c0024t0001	a0020c0024t0001g0212 a0020c0024t0001g0212	1	246	0.0041	-80	c.-12 others(91): Show c.-1222_-1143delTCTCTCCCAGGTGGGCCTCTCCTGGGTGGAATTC CACTCTCCCAGGTGGGCCTCTCCCAGGCGGTCCTCTCTCAGGGGGT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		1057		chr10	TogoVar
CFAP54_chr12_96484577_96880555	96664734	TATATCTA others(73): Show TATATCTATATATATATATATCTATATATATCTATATCTATATCTATATA TATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02970.hp2 others(2): Show HG02280.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 NA18906.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0046 a0053	a0001c0001 a0003c0073 a0009c0019 others(2): Show a0001c0001 a0003c0073 a0009c0019 a0046c0034 a0053c0048	a0001c0001t0001 a0003c0073t0001 a0009c0019t0001 others(2): Show a0001c0001t0001 a0003c0073t0001 a0009c0019t0001 a0046c0034t0001 a0053c0048t0001	a0001c0001t0001g0082 a0003c0073t0001g0214 a0009c0019t0001g0229 others(2): Show a0001c0001t0001g0082 a0003c0073t0001g0214 a0009c0019t0001g0229 a0046c0034t0001g0006 a0053c0048t0001g0008	5	268	0.0187	-80	c.556 others(97): Show c.5563+807_5563+886delCTATATATATATATATCTATATATATCT ATATCTATATCTATATATATATATATATATATATATATATATATATAGAT AT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHGA_chr14_92918150_92940285	92929294	ACCAGCCA others(73): Show ACCAGCCAGGTCCTGAGGGGTTCCCCACCCCCAACTCCTGCCCAGCCAGG TCCTGAGGGGTTCCCCACCCCCAACTCCTGC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01106.hp2 others(13): Show HG00733.hp2 HG01081.hp1 HG01106.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 NA18522.hp1 NA19030.hp1	a0002 a0017 a0002 a0017	a0002c0007 a0017c0032 a0002c0007 a0017c0032	a0002c0007t0001 a0017c0032t0001 a0002c0007t0001 a0017c0032t0001	a0002c0007t0001g0009 a0002c0007t0001g0017 a0002c0007t0001g0032 others(4): Show a0002c0007t0001g0009 a0002c0007t0001g0017 a0002c0007t0001g0032 a0002c0007t0001g0046 a0002c0007t0001g0047 a0002c0007t0001g0048 a0017c0032t0001g0045	16	447	0.0358	-80	c.257 others(95): Show c.257-380_257-301delAGCCAGGTCCTGAGGGGTTCCCCACCCCCA ACTCCTGCCCAGCCAGGTCCTGAGGGGTTCCCCACCCCCAACTCCTGCCC	CHGA	ENSG00000100604.13	transcript	ENST00000216492.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHRM3_chr1_239381568_239920450	239404388	GAAAGAAA others(73): Show GAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0081 a0001c0005t0048g0081	1	116	0.0086	-80	c.-52 others(101): Show c.-521+17178_-521+17257delAAAGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAG	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA4_chr20_63338223_63366349	63339926	AATGAATT others(73): Show AATGAATTACATCATATCCACAAAGACGAGTGAATTACGTCATATCCACA CAGATGAATGAATTACATCATATCCACACAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG03098.hp2 HG01167.hp1 HG03098.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0010 a0001c0003 a0005c0010	a0001c0003t0002 a0005c0010t0008 a0001c0003t0002 a0005c0010t0008	a0001c0003t0002g0003 a0005c0010t0008g0046 a0001c0003t0002g0003 a0005c0010t0008g0046	2	168	0.0119	-80	c.67 others(91): Show c.6732_*6811delCTGTGTGGATATGATGTAATTCATTCATCTGTGT GGATATGACGTAATTCACTCGTCTTTGTGGATATGATGTAATTCAT	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		3296		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63366131	AGCTCCCT others(73): Show AGCTCCCTGCCCTCTCCTGGTGCTCCCTGCCCTCTCCTAGTGCTCCCTGC CCTCTCCTGGTGCTCCCTGCCCTCTCCTAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG02486.hp1 others(6): Show HG00323.hp2 HG01109.hp2 HG02486.hp1 HG02647.hp2 HG02886.hp2 HG03492.hp1 HG03688.hp2 HG04115.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(2): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0002c0006	a0001c0001t0013 a0001c0001t0014 a0001c0003t0005 others(4): Show a0001c0001t0013 a0001c0001t0014 a0001c0003t0005 a0001c0007t0008 a0001c0007t0023 a0001c0009t0008 a0002c0006t0015	a0001c0001t0013g0130 a0001c0001t0014g0128 a0001c0001t0014g0129 others(6): Show a0001c0001t0013g0130 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0003t0005g0127 a0001c0007t0008g0035 a0001c0007t0008g0037 a0001c0007t0023g0034 a0001c0009t0008g0036 a0002c0006t0015g0032	9	168	0.0536	-80	c.-50 others(91): Show c.-5046_-4967delACTAGGAGAGGGCAGGGAGCACCAGGAGAGGGCA GGGAGCACTAGGAGAGGGCAGGGAGCACCAGGAGAGGGCAGGGAGC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		4783		chr20	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(73): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01934.hp2 HG03139.hp1 others(1): Show HG01167.hp2 HG01934.hp2 HG03139.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0001g0167 a0001c0001t0002g0058 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0167 a0001c0001t0002g0058 a0001c0001t0005g0082	4	254	0.0158	-80	c.131 others(99): Show c.131-13969_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757458	GAAAGAAA others(73): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	254	0.0039	-80	c.131 others(99): Show c.131-13953_131-13874delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAA GAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757462	GAAAGAAA others(73): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	254	0.0039	-80	c.131 others(99): Show c.131-13949_131-13870delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIROP_chr14_23094062_23109989	23108282	CTCCTCAC others(73): Show CTCCTCACTTCCCAGACGGGGTGGCGGACGGGCAGAGGCGGTCCTCACTT CCCAGATGGGGCGGCGGCCGGGCAGAGGCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	450	0.0022	-80	c.-34 others(91): Show c.-3442_-3363delCCGCCTCTGCCCGGCCGCCGCCCCATCTGGGAAG TGAGGACCGCCTCTGCCCGTCCGCCACCCCGTCTGGGAAGTGAGGA	CIROP	ENSG00000283654.3	transcript	ENST00000637218.2	protein_coding		3294		chr14	TogoVar
CLN8_chr8_1758789_1791570	1763521	CCGCCCCC others(73): Show CCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGC CCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	413	0.0024	-80	c.-48 others(89): Show c.-487_-408delCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCG CCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		267		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763564	GCCGCGCC others(73): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 NA18965.hp1 HG02630.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0072 a0001c0001t0003 a0001c0001t0072	a0001c0001t0003g0005 a0001c0001t0072g0002 a0001c0001t0003g0005 a0001c0001t0072g0002	2	413	0.0048	-80	c.-44 others(89): Show c.-444_-365delCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCC GCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		224		chr8	TogoVar
CLSTN2_chr3_139930185_140582397	140490011	CATGTGTG others(73): Show CATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01346.hp2 others(6): Show HG01123.hp1 HG01123.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG02630.hp2 HG02922.hp2 HG03453.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0008 others(4): Show a0001c0001 a0001c0006 a0001c0008 a0001c0019 a0002c0002 a0002c0010 a0004c0012	a0001c0001t0001 a0001c0006t0002 a0001c0006t0004 others(5): Show a0001c0001t0001 a0001c0006t0002 a0001c0006t0004 a0001c0008t0009 a0001c0019t0021 a0002c0002t0001 a0002c0010t0024 a0004c0012t0008	a0001c0001t0001g0063 a0001c0006t0002g0012 a0001c0006t0004g0013 others(6): Show a0001c0001t0001g0063 a0001c0006t0002g0012 a0001c0006t0004g0013 a0001c0008t0009g0100 a0001c0019t0021g0036 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0010t0024g0023 a0004c0012t0008g0041	9	110	0.0818	-80	c.134 others(101): Show c.1344+23283_1344+23362delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMKLR2_chr2_206170316_206218371	206172724	CGGGAGAG others(73): Show CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0304 a0002c0004t0001g0304	1	322	0.0031	-80	c.33 others(91): Show c.3376_*3455delTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2591		chr2	TogoVar
CNGA1_chr4_47930977_48021681	47976161	ATATATAT others(73): Show ATATATATATACACATACATATATATATACATATATATGTATATATATAT ATACACATACATATATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02559.hp1 HG02897.hp2 others(2): Show HG00673.hp1 HG02559.hp1 HG02897.hp2 HG03139.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0080 a0001c0001t0003g0082 others(2): Show a0001c0001t0003g0024 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084	5	366	0.0137	-80	c.-15 others(97): Show c.-15+5152_-15+5231delCATATATATGTATATATATATGTATGTG TATATATATATATACATATATATGTATATATATATGTATGTGTATATATA TA	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNN2_chr19_1021608_1044065	1029340	TACCCAAA others(73): Show TACCCAAATCATCCCAGGCAGGTCTAGCTCAGGGGACCCTAACCCAAATC ATCCCAGGCAGGTCCAGCTCAGGGGACCCTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(8): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG02109.hp2 HG02135.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03831.hp1 HG04199.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0005t0008	a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 others(8): Show a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0002t0004g0266 a0001c0005t0008g0259	11	390	0.0282	-80	c.64- others(95): Show c.64-1707_64-1628delTAGCTCAGGGGACCCTAACCCAAATCATCC CAGGCAGGTCCAGCTCAGGGGACCCTAACCCAAATCATCCCAGGCAGGTC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNST_chr1_246561456_246673595	246605648	GGGTGTCT others(73): Show GGGTGTCTTCCGGCCGGGGTGCGTGTCTTCCGGCCGGGGTAGGTGTCTTC CGGCCGGGGTAGGTGTCTTCCGGCCGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00738.hp2 others(71): Show HG00423.hp2 HG00558.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp2 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18999.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19079.hp1 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0004c0004t0003 a0004c0004t0021	a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0076 others(70): Show a0001c0001t0001g0025 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0304 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0078 a0001c0001t0002g0107 a0001c0001t0002g0183 a0001c0001t0002g0225 a0001c0001t0003g0003 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0096 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0137 a0001c0001t0003g0144 a0001c0001t0003g0163 a0001c0001t0003g0199 a0001c0001t0003g0211 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0250 a0001c0001t0003g0261 a0001c0001t0003g0270 a0001c0001t0003g0282 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0004g0004 a0001c0001t0004g0006 a0001c0001t0004g0026 a0001c0001t0007g0062 a0001c0001t0008g0021 a0001c0001t0009g0010 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0010g0229 a0001c0001t0010g0230 a0001c0001t0010g0286 a0001c0001t0012g0001 a0001c0001t0014g0164 a0001c0001t0014g0165 a0004c0004t0003g0119 a0004c0004t0003g0184 a0004c0004t0003g0185 a0004c0004t0003g0192 a0004c0004t0003g0193 a0004c0004t0021g0152	74	320	0.2313	-80	c.379 others(99): Show c.379+13787_379+13866delAGGTGTCTTCCGGCCGGGGTGCGTGT CTTCCGGCCGGGGTAGGTGTCTTCCGGCCGGGGTAGGTGTCTTCCGGCCG GGGT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL20A1_chr20_63288186_63339806	63304190	TGTGTGGG others(73): Show TGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTGCACGTGTGGGTT CCTCCCTCCCTTCCTCCCTCCAGGTGCGCAG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01109.hp2 others(14): Show HG00323.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01891.hp2 HG02055.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp2	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0014 a0018 a0019	a0001c0001 a0001c0014 a0003c0003 others(4): Show a0001c0001 a0001c0014 a0003c0003 a0007c0015 a0014c0027 a0018c0035 a0019c0028	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0014t0003 a0003c0003t0006 a0007c0015t0004 a0014c0027t0002 a0018c0035t0040 a0019c0028t0021	a0001c0001t0001g0040 a0001c0001t0001g0089 a0001c0001t0007g0041 others(13): Show a0001c0001t0001g0040 a0001c0001t0001g0089 a0001c0001t0007g0041 a0001c0001t0020g0039 a0001c0014t0003g0136 a0003c0003t0006g0008 a0003c0003t0006g0035 a0003c0003t0006g0036 a0003c0003t0006g0037 a0003c0003t0006g0038 a0003c0003t0006g0072 a0007c0015t0004g0249 a0007c0015t0004g0250 a0014c0027t0002g0102 a0018c0035t0040g0245 a0019c0028t0021g0024	17	290	0.0586	-80	c.194 others(97): Show c.194-1187_194-1108delCGTGTGGGTTCCTCCCTCCCTTCCTCCC TCCAGGTGCGCAGGTGTGGGTTCCTCCCTCCCTTCCTCCCTCCAGGTGTG CA	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178420531	ACTTTCCT others(73): Show ACTTTCCTCCTCCCCTCCCTGAGATGTGACCTCCCTCCTCCCCTCTCCCA CTCTTTCTCCTTCCCCTCCCCCCTTCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0093 a0004c0011t0001g0093	1	236	0.0042	-80	c.362 others(101): Show c.362-113692_362-113613delGGGGGGAAGGGGGGAGGGGAAGGA GAAAGAGTGGGAGAGGGGAGGAGGGAGGTCACATCTCAGGGAGGGGAGGA GGAAAG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489659	TTCTTCCT others(73): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTT CTTTCATTCTTTCTTTCTCTCTCTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0019 a0003c0018t0019	a0003c0018t0019g0005 a0003c0018t0019g0005	1	174	0.0058	-80	c.385 others(99): Show c.385+41877_385+41956delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC TCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COQ8A_chr1_226935294_226992544	226976139	ACTGCGGG others(73): Show ACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGCGGGGCTGCGGGAC TGCGGGGCTGTGGGACTGCGATGTTGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(163): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 a0001c0003t0003 a0001c0006t0003 a0001c0010t0004 a0001c0010t0010 a0001c0020t0003	a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0129 others(152): Show a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0129 a0001c0001t0001g0194 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0069 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0122 a0001c0001t0002g0138 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0356 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0368 a0001c0001t0007g0350 a0001c0001t0007g0351 a0001c0001t0007g0352 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0036 a0001c0002t0003g0044 a0001c0002t0003g0095 a0001c0002t0003g0101 a0001c0002t0003g0207 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0236 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0252 a0001c0002t0003g0302 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0372 a0001c0003t0003g0030 a0001c0003t0003g0035 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0061 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0068 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0077 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0320 a0001c0003t0003g0323 a0001c0006t0003g0075 a0001c0010t0004g0250 a0001c0010t0010g0254 a0001c0020t0003g0357	166	412	0.4029	-80	c.656 others(97): Show c.656-1288_656-1209delATGTTGCCTGGCTGCGGGGCTGCGGGAC TGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGCGGGGCTGTGGGACTG CG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89587930	CACCCACA others(73): Show CACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18941.hp2 NA18946.hp2 others(3): Show HG01106.hp2 NA18941.hp2 NA18946.hp2 NA18964.hp1 NA19000.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0140 a0001c0002t0002g0084 a0001c0002t0003g0031 others(3): Show a0001c0001t0001g0140 a0001c0002t0002g0084 a0001c0002t0003g0031 a0001c0002t0003g0034 a0001c0002t0003g0047 a0001c0002t0003g0048	6	348	0.0172	-80	c.928 others(95): Show c.928-718_928-639delTACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPSF2_chr14_92116969_92177145	92173341	ATATGTAT others(73): Show ATATGTATATATATATACGTATATATATATGTATATATATACGTATATAT ATATATACACATATGTATATATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG03225.hp2 NA19077.hp1 HG01981.hp2 HG03225.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0026 a0001c0001t0147 a0002c0002t0010 a0001c0001t0026 a0001c0001t0147 a0002c0002t0010	a0001c0001t0026g0150 a0001c0001t0147g0030 a0002c0002t0010g0078 a0001c0001t0026g0150 a0001c0001t0147g0030 a0002c0002t0010g0078	3	388	0.0077	-80	c.11 others(93): Show c.11598_*11677delTATGTATATATATATACGTATATATATATGTA TATATATACGTATATATATATATACACATATGTATATATATATATGTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1197		chr14	TogoVar
CPSF6_chr12_69234569_69279358	69236437	AATATATA others(73): Show AATATATATAGCATATATATTATATATTAAAATATATATAGCATATATAT TAAAATATATATAGCATATATATATTAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01071.hp2 others(43): Show HG00558.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02148.hp2 HG02165.hp1 HG02300.hp2 HG02886.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 NA18612.hp2 NA18946.hp2 NA18959.hp1 NA18968.hp2 NA18979.hp2 NA18984.hp1 NA18988.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0073 a0001c0001t0074 a0001c0002t0001 others(10): Show a0001c0001t0073 a0001c0001t0074 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0035 a0001c0002t0039 a0001c0002t0081 a0001c0002t0089 a0001c0005t0001	a0001c0001t0073g0180 a0001c0001t0074g0001 a0001c0002t0001g0014 others(41): Show a0001c0001t0073g0180 a0001c0001t0074g0001 a0001c0002t0001g0014 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0004g0002 a0001c0002t0004g0028 a0001c0002t0004g0128 a0001c0002t0006g0113 a0001c0002t0006g0160 a0001c0002t0006g0167 a0001c0002t0024g0143 a0001c0002t0025g0107 a0001c0002t0026g0051 a0001c0002t0035g0138 a0001c0002t0035g0145 a0001c0002t0039g0014 a0001c0002t0039g0029 a0001c0002t0081g0100 a0001c0002t0089g0031 a0001c0005t0001g0135	46	392	0.1174	-80	c.-32 others(91): Show c.-3209_-3130delATATATATAGCATATATATTATATATTAAAATAT ATATAGCATATATATTAAAATATATATAGCATATATATATTAAAAT	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding		3131		chr12	TogoVar
CREB5_chr7_28407518_28830894	28560849	TGTGTGTG others(73): Show TGTGTGTGTGCGTGTGCCTGCGTGCGCGTGCGTGCGTGCGTGTGTGTGCG TGCGCGCGTGCGTGTGCGTGTGTGCGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02809.hp1 others(2): Show HG02258.hp1 HG02615.hp2 HG02809.hp1 HG02897.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0044 a0001c0003t0031	a0001c0001t0002g0120 a0001c0001t0009g0181 a0001c0001t0011g0003 others(2): Show a0001c0001t0002g0120 a0001c0001t0009g0181 a0001c0001t0011g0003 a0001c0001t0044g0173 a0001c0003t0031g0160	5	198	0.0253	-80	c.292 others(97): Show c.292-9508_292-9429delTGCGTGTGCCTGCGTGCGCGTGCGTGCG TGCGTGTGTGTGCGTGCGCGCGTGCGTGTGCGTGTGTGCGCGTGCGTGTG TG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CREBL2_chr12_12606876_12650108	12618186	CTCCCAGA others(73): Show CTCCCAGACGGGGCGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACG GGGCGGCTGCCGGGCGGAGACGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	372	0.0027	-80	c.15+ others(95): Show c.15+6028_15+6107delACGCTCCTCACTTCCCAGACGGGGCGGCTG CCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAG	CREBL2	ENSG00000111269.3	transcript	ENST00000228865.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
CROCC2_chr2_240901336_240998311	240985258	CCACACAC others(73): Show CCACACACACACCCAGGCACTCCACACACACACACCCAGGCACTCACTCC ACACACACACCCAGGCACTCACTCCACCACA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG02155.hp1 others(2): Show HG00621.hp1 HG00673.hp1 HG02155.hp1 HG03492.hp1 NA18998.hp1	a0002 a0007 a0009 a0002 a0007 a0009	a0002c0002 a0007c0007 a0009c0009 a0002c0002 a0007c0007 a0009c0009	a0002c0002t0001 a0002c0002t0002 a0007c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0007c0007t0001 a0009c0009t0001	a0002c0002t0001g0152 a0002c0002t0002g0302 a0002c0002t0002g0316 others(2): Show a0002c0002t0001g0152 a0002c0002t0002g0302 a0002c0002t0002g0316 a0007c0007t0001g0208 a0009c0009t0001g0213	5	350	0.0143	-80	c.455 others(99): Show c.4551+2239_4551+2318delACCCAGGCACTCCACACACACACACC CAGGCACTCACTCCACACACACACCCAGGCACTCACTCCACCACACACAC ACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1297274	CCCTACTC others(73): Show CCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACTG TACAGTCCCCTACTCACGACCCCTACAGTCT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0150 a0001c0014t0005g0150	1	159	0.0063	-80	c.810 others(97): Show c.810+1824_810+1903delTCACGACCCCTACAGTCTCCTACCCATG ACCCCTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACAGTCTCCT AC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297462	ACACTCTC others(73): Show ACACTCTCCTACCCATAACCCCTGGCGGAACCGTACAGTCCCCTACTCAC GACCCCTACAGTCTCCTACCCATGACCCCTG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	159	0.0063	-80	c.810 others(97): Show c.810+2007_810+2086delCACTCTCCTACCCATAACCCCTGGCGGA ACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC TG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12			chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666960	AAAGAAAG others(73): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04199.hp1 NA18966.hp1 others(5): Show HG02293.hp2 HG04199.hp1 NA18966.hp1 NA18984.hp1 NA19011.hp2 NA19054.hp2 NA19066.hp1 NA19087.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0009 a0001c0001 a0002c0003 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0003t0004 a0004c0009t0003	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0069 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0223 a0001c0001t0010g0150 a0002c0003t0004g0104 a0004c0009t0003g0107	8	238	0.0336	-80	c.-39 others(101): Show c.-391-65175_-391-65096delCCTTCCTTCCTTCCTTCCTTCCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542592	TTATATAT others(73): Show TTATATATATATATATATATATATATATATATATATATATATATATATGT ATATATATATATATATATATATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0052 a0001c0001t0039g0052	1	390	0.0026	-80	c.230 others(97): Show c.230+7403_230+7482delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATATATATATATATATATATATA TA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST9L_chr20_23559732_23573484	23561000	CTTCCTTC others(73): Show CTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTT TCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	392	0.0026	-80	c.38 others(91): Show c.3868_*3947delAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3731		chr20	TogoVar
CTDP1_chr18_79674803_79759503	79732532	CACATCAG others(73): Show CACATCAGGAGTGCTCCCAAAATCACGTGAGACATGAGAACTCACATCAG GAGTGCTCCCAAAATCACGTGAGACATGAGA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0005 a0005c0015t0005	a0005c0015t0005g0366 a0005c0015t0005g0366	1	378	0.0027	-80	c.258 others(99): Show c.2580+3466_2580+3545delATCAGGAGTGCTCCCAAAATCACGTG AGACATGAGAACTCACATCAGGAGTGCTCCCAAAATCACGTGAGACATGA GAAC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTNNBL1_chr20_37689030_37877118	37701848	CGTACGCT others(73): Show CGTACGCTCATCTCAGCTGCAGATGTGTGGCGTAATACATCGTACGCTCA TCTCAGCTGCAGATGTGTGGCGTAATACATT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02055.hp1 others(9): Show HG00741.hp2 HG01243.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG03098.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0224 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0001g0250	12	266	0.0451	-80	c.30+ others(95): Show c.30+7743_30+7822delTCATCTCAGCTGCAGATGTGTGGCGTAATA CATTGTACGCTCATCTCAGCTGCAGATGTGTGGCGTAATACATCGTACGC	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CYLC2_chr9_102990333_103023488	103014684	ATATGTAA others(73): Show ATATGTAATATACGTATGTATATTATGCAATATACATATGTAATATACGT ATGTATATTATGCAATATACATATGTAATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(156): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0002c0002 a0009c0013 others(1): Show a0001c0001 a0002c0002 a0009c0013 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0033 a0001c0001t0043 a0001c0001t0054 a0001c0001t0057 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0002c0002t0010 a0002c0002t0015 a0002c0002t0031 a0009c0013t0001 a0013c0014t0033	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0028 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0073 a0001c0001t0001g0144 a0001c0001t0001g0155 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0082 a0001c0001t0002g0107 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0004g0217 a0001c0001t0006g0002 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0109 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0139 a0001c0001t0006g0148 a0001c0001t0006g0157 a0001c0001t0006g0162 a0001c0001t0006g0183 a0001c0001t0006g0190 a0001c0001t0006g0192 a0001c0001t0007g0002 a0001c0001t0007g0008 a0001c0001t0007g0015 a0001c0001t0007g0028 a0001c0001t0007g0030 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0158 a0001c0001t0007g0209 a0001c0001t0011g0075 a0001c0001t0011g0180 a0001c0001t0011g0233 a0001c0001t0011g0234 a0001c0001t0014g0046 a0001c0001t0014g0074 a0001c0001t0014g0080 a0001c0001t0014g0176 a0001c0001t0014g0179 a0001c0001t0014g0185 a0001c0001t0014g0189 a0001c0001t0016g0002 a0001c0001t0016g0004 a0001c0001t0016g0008 a0001c0001t0016g0030 a0001c0001t0016g0184 a0001c0001t0016g0191 a0001c0001t0019g0081 a0001c0001t0020g0004 a0001c0001t0020g0045 a0001c0001t0020g0047 a0001c0001t0020g0048 a0001c0001t0020g0174 a0001c0001t0024g0076 a0001c0001t0025g0006 a0001c0001t0025g0135 a0001c0001t0025g0137 a0001c0001t0025g0145 a0001c0001t0025g0151 a0001c0001t0030g0006 a0001c0001t0030g0013 a0001c0001t0030g0150 a0001c0001t0030g0169 a0001c0001t0033g0060 a0001c0001t0043g0250 a0001c0001t0054g0072 a0001c0001t0057g0166 a0001c0001t0063g0246 a0001c0001t0065g0251 a0001c0001t0066g0249 a0002c0002t0010g0276 a0002c0002t0015g0027 a0002c0002t0015g0285 a0002c0002t0015g0286 a0002c0002t0015g0289 a0002c0002t0031g0027 a0002c0002t0031g0288 a0009c0013t0001g0002 a0013c0014t0033g0245	159	448	0.3549	-80	c.81 others(99): Show c.817-2203_*817-2124delTATGTAATATACGTATGTATATTATG CAATATACATATGTAATATACGTATGTATATTATGCAATATACATATGTA ATAT	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7			chr9	TogoVar
CYLC2_chr9_102990333_103023488	103014685	TATGTAAT others(73): Show TATGTAATATACGTATGTATATTATGCAATATACATATGTAATATACGTA TGTATATTATGCAATATACATATGTAATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	448	0.0022	-80	c.81 others(99): Show c.817-2202_*817-2123delATGTAATATACGTATGTATATTATGC AATATACATATGTAATATACGTATGTATATTATGCAATATACATATGTAA TATA	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7			chr9	TogoVar
CYLD_chr16_50737086_50806935	50754975	GTATACAT others(73): Show GTATACATATATACATATATATGTATATATACATATATATGTATATATAC ATATATATGTATATATACATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	302	0.0033	-80	c.913 others(95): Show c.913+562_913+641delTACATATATATGTATATATACATATATATG TATATATACATATATATGTATATATACATATATATGTATATATACATATA	CYLD	ENSG00000083799.18	transcript	ENST00000427738.8	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
CYP4F11_chr19_15907377_15939529	15931989	GGAATGAG others(73): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19005.hp2 HG02132.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0131 a0001c0002t0149 a0001c0002t0131 a0001c0002t0149	a0001c0002t0131g0216 a0001c0002t0149g0289 a0001c0002t0131g0216 a0001c0002t0149g0289	2	386	0.0052	-80	c.198 others(97): Show c.198+2142_198+2221delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932141	TGAGGAGA others(73): Show TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0078 a0002c0001t0078	a0002c0001t0078g0056 a0002c0001t0078g0056	1	386	0.0026	-80	c.198 others(97): Show c.198+1990_198+2069delGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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