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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDK11A_chr1_1697379_1729357	1728434	TTCAGCTG others(25): Show TTCAGCTGTTTAAAATGACTGTCTGACTCACCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	370	0.0027	-32	c.-42 others(43): Show c.-4222_-4191delTGGTGAGTCAGACAGTCATTTTAAACAGCTGA		CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding					4078		chr1	TogoVar
CDK12_chr17_39456486_39539544	39481680	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG03540.hp1 others(2): Show HG02280.hp2 HG03209.hp2 HG03540.hp1 NA19009.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 a0001c0002t0016	a0001c0001t0003g0112 a0001c0001t0004g0089 a0001c0001t0004g0090 others(2): Show a0001c0001t0003g0112 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0002t0009g0011 a0001c0002t0016g0020	5	258	0.0194	-32	c.193 others(51): Show c.1932-8871_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTCT TTCTCT		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK14_chr7_90591321_91215590	90649289	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	165	0.0061	-32	c.123 others(51): Show c.123+45044_123+45075delTTTCTTTCTTTCTTTCTTTCCTTCCT TCCTTC		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90649338	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	164	0.0061	-32	c.123 others(51): Show c.123+45091_123+45122delCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCT		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK14_chr7_90591321_91215590	90649346	TTCCTTCC others(25): Show TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	160	0.0063	-32	c.123 others(51): Show c.123+45099_123+45130delCCTTCCTTCCTTCCTTCCTTTCCTTC CTTCCT		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDK2AP1_chr12_123255976_123276856	123275000	TGCTGAGG others(25): Show TGCTGAGGGGCTGAGGGGCTGAGGTGCTGAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	322	0.0031	-32	c.-34 others(43): Show c.-3414_-3383delCCCTCAGCACCTCAGCCCCTCAGCCCCTCAGC		CDK2AP1	ENSG00000111328.7	transcript	ENST00000261692.7	protein_coding					3145		chr12	TogoVar
CDK8_chr13_26249129_26410238	26395318	CTACATGC others(25): Show CTACATGCCTGTAATGTATTACAGGCATGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18941.hp2 NA18952.hp2 HG00673.hp1 NA18941.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0170	3	326	0.0092	-32	c.791 others(47): Show c.791-952_791-921delGTATTACAGGCATGGGATTACATGCCTGTA AT		CDK8	ENSG00000132964.13	transcript	ENST00000381527.8	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
CDKAL1_chr6_20529457_21237404	20638726	CAAGTATC others(25): Show CAAGTATCTGGGATTACAAACGCGCGCCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00673.hp2 others(42): Show HG00544.hp2 HG00621.hp2 HG00673.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02132.hp2 HG02273.hp2 HG02300.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp2 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18956.hp1 NA18966.hp2 NA18970.hp2 NA18992.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19082.hp1 NA19085.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0025 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0044 a0001c0002t0049 a0001c0004t0007 a0001c0004t0018 a0001c0008t0011 a0001c0010t0002 a0001c0010t0007 a0002c0003t0002 a0002c0003t0005 a0002c0003t0013 a0002c0007t0002 a0002c0007t0005	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0036 others(42): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0002g0036 a0001c0001t0003g0147 a0001c0001t0004g0002 a0001c0001t0007g0043 a0001c0001t0008g0054 a0001c0001t0010g0035 a0001c0001t0010g0051 a0001c0001t0025g0060 a0001c0001t0026g0001 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0003g0032 a0001c0002t0003g0055 a0001c0002t0005g0064 a0001c0002t0006g0050 a0001c0002t0006g0053 a0001c0002t0008g0040 a0001c0002t0011g0131 a0001c0002t0012g0039 a0001c0002t0013g0034 a0001c0002t0016g0044 a0001c0002t0044g0038 a0001c0002t0049g0059 a0001c0004t0007g0017 a0001c0004t0007g0022 a0001c0004t0018g0015 a0001c0008t0011g0068 a0001c0008t0011g0069 a0001c0010t0002g0106 a0001c0010t0007g0045 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0079 a0002c0003t0005g0037 a0002c0003t0005g0052 a0002c0003t0005g0080 a0002c0003t0005g0081 a0002c0003t0013g0041 a0002c0007t0002g0048 a0002c0007t0005g0062 a0002c0007t0005g0063	45	194	0.2320	-32	c.287 others(51): Show c.287-10546_287-10515delGCGCGCCACCATAAGTATCTGGGATT ACAAAC		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20803971	TTGGTCCT others(25): Show TTGGTCCTGTTTAGGGAAAAAGAAAATGAAATG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp2 NA21309.hp1 HG01255.hp2 HG02257.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0001 a0001c0004t0004 a0001c0011t0004 a0001c0004t0001 a0001c0004t0004 a0001c0011t0004	a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0011t0004g0100 a0001c0004t0001g0099 a0001c0004t0004g0102 a0001c0011t0004g0100	3	194	0.0155	-32	c.638 others(51): Show c.638+22709_638+22740delGTCCTGTTTAGGGAAAAAGAAAATGA AATGTG		CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKL2_chr4_75571496_75635528	75595954	GAGGAAGG others(25): Show GAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp1 HG02071.hp1 others(5): Show HG00544.hp1 HG01106.hp1 HG02071.hp1 HG02738.hp2 HG03239.hp1 HG03579.hp1 NA18971.hp1 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0001g0223 others(5): Show a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0002g0135 a0001c0001t0007g0254 a0001c0001t0016g0222 a0002c0002t0001g0215	8	245	0.0327	-32	c.141 others(49): Show c.1416+261_1416+292delTCCTTCCTTCTTTCCTTCCTTCCTTCCT TCCT		CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13						chr4	TogoVar
CDKL2_chr4_75571496_75635528	75596001	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(47): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01496.hp2 HG01884.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03710.hp2 NA18612.hp2 NA18975.hp2 NA19030.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 others(45): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0090 a0001c0001t0003g0167 a0001c0001t0003g0267 a0001c0001t0004g0002 a0001c0001t0004g0061 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0008g0049	50	304	0.1645	-32	c.141 others(49): Show c.1416+214_1416+245delTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT		CDKL2	ENSG00000138769.11	transcript	ENST00000307465.9	protein_coding	10/13						chr4	TogoVar
CDKL3_chr5_134293424_134372171	134326815	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19030.hp2 HG02615.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0193 a0001c0001t0001g0195	2	154	0.0130	-32	c.540 others(49): Show c.540-4944_540-4913delTATATATATATATATATATATATATATA TACA		CDKL3	ENSG00000006837.12	transcript	ENST00000265334.9	protein_coding	4/12						chr5	TogoVar
CDO1_chr5_115799733_115821659	115812071	TTGAATTT others(25): Show TTGAATTTTATTAATTTATATATGTACCATAAA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0094 a0002c0004t0001g0094	1	370	0.0027	-32	c.249 others(47): Show c.249-788_249-757delTTTATGGTACATATATAAATTAATAAAATT CA		CDO1	ENSG00000129596.5	transcript	ENST00000250535.5	protein_coding	2/4						chr5	TogoVar
CDYL2_chr16_80592907_80809598	80659088	GATGGATG others(25): Show GATGGATGGATGGACAGACGGATGGATGGATGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01934.hp2 HG02148.hp1 others(8): Show HG01358.hp1 HG01934.hp2 HG02148.hp1 HG02257.hp1 HG02572.hp1 HG02886.hp2 HG02970.hp1 NA18945.hp1 NA18966.hp2 NA18988.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0002t0038 a0001c0002t0072 a0001c0008t0008	a0001c0001t0001g0088 a0001c0001t0002g0241 a0001c0001t0006g0090 others(8): Show a0001c0001t0001g0088 a0001c0001t0002g0241 a0001c0001t0006g0090 a0001c0001t0006g0150 a0001c0001t0006g0243 a0001c0001t0010g0129 a0001c0001t0017g0128 a0001c0002t0038g0197 a0001c0002t0072g0257 a0001c0008t0008g0019 a0001c0008t0008g0067	11	256	0.0430	-32	c.616 others(51): Show c.616+25418_616+25449delTCATCCATCCATCCGTCTGTCCATCC ATCCAT		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	2/6						chr16	TogoVar
CDYL_chr6_4771404_4960544	4900779	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02451.hp1 others(6): Show HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02818.hp2 HG03041.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0003t0004 a0001c0004t0003 a0001c0003t0001 a0001c0003t0004 a0001c0004t0003	a0001c0003t0001g0035 a0001c0003t0001g0038 a0001c0003t0001g0039 others(6): Show a0001c0003t0001g0035 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0152 a0001c0003t0004g0020 a0001c0004t0003g0034 a0001c0004t0003g0147	9	68	0.1324	-32	c.691 others(49): Show c.691+8420_691+8451delATATATATATATATATATATATATATAT ATAT		CDYL	ENSG00000153046.18	transcript	ENST00000397588.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM20_chr19_44501159_44534675	44518099	AAAGAAAG others(25): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02698.hp2 HG00738.hp1 HG02698.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0318 a0003c0004t0001g0325 a0003c0004t0001g0318 a0003c0004t0001g0325	2	402	0.0050	-32	c.103 others(49): Show c.1031-907_1031-876delCCTTCCTTCCTTCCTTCCTTCCTTCCTT TCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44518103	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG02109.hp2 others(3): Show HG00738.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02818.hp1 HG03540.hp1	a0006 a0018 a0021 a0006 a0018 a0021	a0006c0038 a0018c0024 a0021c0028 a0006c0038 a0018c0024 a0021c0028	a0006c0038t0001 a0018c0024t0001 a0021c0028t0001 a0006c0038t0001 a0018c0024t0001 a0021c0028t0001	a0006c0038t0001g0098 a0018c0024t0001g0064 a0018c0024t0001g0065 others(3): Show a0006c0038t0001g0098 a0018c0024t0001g0064 a0018c0024t0001g0065 a0018c0024t0001g0102 a0021c0028t0001g0079 a0021c0028t0001g0080	6	184	0.0326	-32	c.103 others(49): Show c.1031-911_1031-880delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532541	AAGGAAAG others(25): Show AAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG06807.hp1 others(5): Show HG01070.hp2 HG01071.hp2 HG06807.hp1 NA18990.hp1 NA18995.hp2 NA19007.hp2 NA19082.hp1 NA20752.hp2	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0009	a0002c0002 a0005c0005 a0008c0006 others(1): Show a0002c0002 a0005c0005 a0008c0006 a0009c0007	a0002c0002t0001 a0005c0005t0002 a0008c0006t0001 others(1): Show a0002c0002t0001 a0005c0005t0002 a0008c0006t0001 a0009c0007t0001	a0002c0002t0001g0040 a0005c0005t0002g0060 a0005c0005t0002g0063 others(4): Show a0002c0002t0001g0040 a0005c0005t0002g0060 a0005c0005t0002g0063 a0008c0006t0001g0049 a0008c0006t0001g0309 a0009c0007t0001g0002 a0009c0007t0001g0083	8	403	0.0199	-32	c.-30 others(43): Show c.-3064_-3033delCTTTCTTTTCTTTCTTTCTTCCTTTCTTTCCT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2867		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41631027	GGTTCTAT others(25): Show GGTTCTATAGGCAGTTGCTGGGCAGATGTCCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	436	0.0023	-32	c.-40 others(43): Show c.-4096_-4065delAAGGACATCTGCCCAGCAACTGCCTATAGAAC		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding					3954		chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37194875	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCTTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0011 a0001c0001t0025	a0001c0001t0011g0009 a0001c0001t0025g0018 a0001c0001t0011g0009 a0001c0001t0025g0018	2	435	0.0046	-32	c.-16 others(43): Show c.-1646_-1615delCCTCCCTTCCTTCCTTCCTTCTTTCCTTCCTT		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1620		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37194879	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(128): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01123.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02738.hp2 HG02818.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0068 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0084 a0001c0001t0088 a0001c0001t0097	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0004g0006 a0001c0001t0006g0001 a0001c0001t0006g0003 a0001c0001t0006g0036 a0001c0001t0008g0001 a0001c0001t0008g0017 a0001c0001t0010g0001 a0001c0001t0010g0032 a0001c0001t0016g0001 a0001c0001t0016g0003 a0001c0001t0018g0012 a0001c0001t0032g0012 a0001c0001t0034g0035 a0001c0001t0035g0003 a0001c0001t0038g0001 a0001c0001t0040g0001 a0001c0001t0068g0001 a0001c0001t0071g0001 a0001c0001t0074g0008 a0001c0001t0075g0001 a0001c0001t0084g0017 a0001c0001t0088g0001 a0001c0001t0097g0001	131	446	0.2937	-32	c.-16 others(43): Show c.-1642_-1611delCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTT		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1616		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37194897	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01361.hp1 HG02109.hp2 others(9): Show HG00280.hp2 HG01361.hp1 HG02109.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0061 others(6): Show a0001c0001t0003 a0001c0001t0017 a0001c0001t0061 a0001c0001t0070 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080	a0001c0001t0003g0005 a0001c0001t0017g0016 a0001c0001t0061g0003 others(6): Show a0001c0001t0003g0005 a0001c0001t0017g0016 a0001c0001t0061g0003 a0001c0001t0070g0003 a0001c0001t0073g0003 a0001c0001t0076g0014 a0001c0001t0077g0003 a0001c0001t0079g0028 a0001c0001t0080g0014	12	213	0.0563	-32	c.-16 others(43): Show c.-1624_-1593delTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1598		chr2	TogoVar
CEBPZOS_chr2_37191496_37209743	37202644	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0004 a0001c0001t0083g0004	1	102	0.0098	-32	c.80 others(41): Show c.801_*832delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding	5/5				937	INFO_REALIGN_3_PRIME	chr2	TogoVar
CEBPZ_chr2_37196612_37236596	37202644	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	95	0.0105	-32	c.302 others(49): Show c.3025+108_3025+139delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		CEBPZ	ENSG00000115816.15	transcript	ENST00000234170.10	protein_coding	15/15						chr2	TogoVar
CELSR1_chr22_46356174_46542620	46500101	ATCCTCCC others(25): Show ATCCTCCCAGCATGATCCCACCCCAGCCCCTGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02976.hp1 HG02258.hp2 HG02486.hp2 HG02976.hp1	a0007 a0019 a0028 a0007 a0019 a0028	a0007c0047 a0019c0068 a0028c0021 a0007c0047 a0019c0068 a0028c0021	a0007c0047t0001 a0019c0068t0005 a0028c0021t0001 a0007c0047t0001 a0019c0068t0005 a0028c0021t0001	a0007c0047t0001g0080 a0019c0068t0005g0001 a0028c0021t0001g0061 a0007c0047t0001g0080 a0019c0068t0005g0001 a0028c0021t0001g0061	3	91	0.0330	-32	c.354 others(53): Show c.3544+33494_3544+33525delCCAGGGGCTGGGGTGGGATCATGC TGGGAGGA		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CEL_chr9_133056981_133076861	133071304	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00438.hp2 HG00597.hp2 others(25): Show HG00423.hp1 HG00438.hp2 HG00597.hp2 HG00639.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01361.hp2 HG01943.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02738.hp1 HG02738.hp2 HG03834.hp2 HG04199.hp2 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0002g0001 a0001c0002t0001g0005 a0001c0017t0001g0001	28	401	0.0698	-32	c.181 others(41): Show c.1810_1841delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val604fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1832/2381	1810/2262	604/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071337	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01106.hp1 HG01433.hp1 others(17): Show HG01099.hp1 HG01106.hp1 HG01433.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG03225.hp1 HG03225.hp2 HG03688.hp1 HG03710.hp1 HG04204.hp1 NA18941.hp1 NA18950.hp2 NA18966.hp2 NA19006.hp2 NA19054.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0009t0001g0030	20	408	0.0490	-32	c.184 others(41): Show c.1843_1874delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val615fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1865/2381	1843/2262	615/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071370	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00642.hp2 HG02145.hp2 NA18960.hp1 others(5): Show HG00642.hp2 HG02145.hp2 NA18960.hp1 NA18977.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0002g0001 a0001c0002t0001g0002 a0001c0002t0001g0026	8	412	0.0194	-32	c.187 others(41): Show c.1876_1907delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val626fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1898/2381	1876/2262	626/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071403	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00558.hp1 HG01109.hp2 others(12): Show HG00544.hp2 HG00558.hp1 HG01109.hp2 HG01169.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp1 HG02258.hp2 HG02523.hp2 HG02970.hp1 NA18942.hp1 NA18964.hp1 NA19011.hp1 NA19011.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0007c0010	a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 a0007c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0002t0001g0002 a0005c0007t0001g0025 a0007c0010t0001g0003	15	410	0.0366	-32	c.190 others(41): Show c.1909_1940delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val637fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1931/2381	1909/2262	637/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071436	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C C	frameshift_variant frameshift_variant	HIGH	HG01243.hp1 HG04115.hp2 HG04228.hp1 others(5): Show HG01243.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18983.hp2 NA19082.hp2 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0002t0001g0002 a0001c0009t0001g0030	8	409	0.0196	-32	c.194 others(41): Show c.1942_1973delGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC	p.Val others(5): Show p.Val648fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1964/2381	1942/2262	648/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071469	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG02071.hp2 HG02109.hp2 HG02280.hp1 others(8): Show HG02071.hp2 HG02109.hp2 HG02280.hp1 HG02572.hp1 HG03209.hp2 NA18962.hp2 NA18977.hp2 NA18984.hp1 NA18990.hp2 NA19062.hp2 NA19064.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0011 a0001c0001 a0016c0011	a0001c0001t0001 a0001c0001t0002 a0016c0011t0001 a0001c0001t0001 a0001c0001t0002 a0016c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0002g0071 a0016c0011t0001g0001	11	413	0.0266	-32	c.197 others(41): Show c.1975_2006delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCC	p.Val others(5): Show p.Val659fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1997/2381	1975/2262	659/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071500	CGCCCCCC others(25): Show CGCCCCCCCCGTGCCGCCCACGGGTGACGCCGG	C C	frameshift_variant frameshift_variant	HIGH	NA19063.hp2 NA19065.hp1 NA19063.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	411	0.0049	-32	c.200 others(41): Show c.2008_2039delGTGCCGCCCACGGGTGACGCCGGGCCCCCCCC	p.Val others(5): Show p.Val670fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2030/2381	2008/2262	670/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071535	CCCCCCCC others(25): Show CCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show HG00408.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02074.hp1 HG02293.hp2 HG02630.hp1 HG03130.hp2 HG03654.hp2 HG03688.hp2 NA18941.hp2 NA18946.hp2 NA18954.hp2 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18998.hp2 NA19003.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19066.hp2 NA19090.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0020 a0001c0001 a0001c0002 a0008c0020	a0001c0001t0001 a0001c0002t0001 a0008c0020t0001 a0001c0001t0001 a0001c0002t0001 a0008c0020t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 others(11): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0008c0020t0001g0002	42	414	0.1014	-32	c.204 others(41): Show c.2041_2072delGTGCCGCCCACGGGTGACTCCGGCGCCCCCCC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071564	GGCGCCCC others(25): Show GGCGCCCCCCCCGTGCCGCCCACGGGTGACTCC	G G	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	414	0.0024	-32	c.206 others(41): Show c.2064_2095delCGCCCCCCCCGTGCCGCCCACGGGTGACTCCG	p.Ala others(5): Show p.Ala689fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2086/2381	2064/2262	688/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071604	CCCCCGTG others(25): Show CCCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	frameshift_variant frameshift_variant	HIGH	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	414	0.0024	-32	c.210 others(41): Show c.2107_2138delGTGACCCCCACGGGTGACTCCGAGACCGCCCC	p.Val others(5): Show p.Val703fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2129/2381	2107/2262	703/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(36): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG01175.hp2 HG01258.hp1 HG01433.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02165.hp1 HG02523.hp1 HG02683.hp1 HG03130.hp1 HG03239.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 NA18939.hp1 NA18948.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19056.hp1 NA19065.hp2 NA19081.hp1 NA19081.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0013	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0034 a0002c0004 a0004c0015 a0009c0035 a0013c0027	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0007t0013 a0001c0034t0001 a0002c0004t0001 a0002c0004t0023 a0004c0015t0001 a0009c0035t0001 a0013c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0022 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0002g0169 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0002t0001g0005 a0001c0002t0001g0055 a0001c0002t0001g0168 a0001c0007t0013g0205 a0001c0034t0001g0021 a0002c0004t0001g0193 a0002c0004t0001g0195 a0002c0004t0023g0194 a0004c0015t0001g0078 a0009c0035t0001g0160 a0013c0027t0002g0178	39	40	0.9750	-32	c.-17 others(53): Show c.-175-24564_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPF_chr1_214598195_214669571	214616819	CTTCTTTC others(25): Show CTTCTTTCCTTCCTTCCTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0049 a0049	a0049c0060 a0049c0060	a0049c0060t0004 a0049c0060t0004	a0049c0060t0004g0057 a0049c0060t0004g0057	1	276	0.0036	-32	c.360 others(49): Show c.360-1752_360-1721delTCTTTCCTTCCTTCCTCTTTCTTTCTTT CTTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPF_chr1_214598195_214669571	214616835	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02622.hp1 HG03831.hp1 others(5): Show HG00558.hp2 HG02622.hp1 HG03831.hp1 HG04199.hp2 HG06807.hp1 NA18989.hp2 NA18990.hp2 NA19054.hp2	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0008 a0020 a0045	a0002c0002 a0003c0003 a0005c0005 others(3): Show a0002c0002 a0003c0003 a0005c0005 a0008c0006 a0020c0027 a0045c0050	a0002c0002t0001 a0003c0003t0002 a0005c0005t0003 others(3): Show a0002c0002t0001 a0003c0003t0002 a0005c0005t0003 a0008c0006t0001 a0020c0027t0001 a0045c0050t0004	a0002c0002t0001g0182 a0003c0003t0002g0002 a0005c0005t0003g0213 others(3): Show a0002c0002t0001g0182 a0003c0003t0002g0002 a0005c0005t0003g0213 a0008c0006t0001g0017 a0020c0027t0001g0160 a0045c0050t0004g0058	8	41	0.1951	-32	c.360 others(49): Show c.360-1681_360-1650delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPJ_chr13_24877279_24927861	24882133	GATAGATA others(25): Show GATAGATACATCTATATAGATAGATACATCTAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0159	1	66	0.0152	-32	c.10 others(43): Show c.1012_*1043delATAGATGTATCTATCTATATAGATGTATCTAT		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					145		chr13	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01515.hp2 HG01517.hp2 HG01192.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0076 a0001c0001t0002g0025 a0001c0001t0002g0076	3	6	0.5000	-32	c.597 others(47): Show c.597+922_597+953delATATATATATATATATATATATATATATAT AT		CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10						chr5	TogoVar
CENPM_chr22_41933737_41952152	41935956	TGCCTCCT others(25): Show TGCCTCCTGGTTTCAAGTGATTCTCCTGCCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	256	0.0039	-32	c.30 others(43): Show c.3068_*3099delTGAGGCAGGAGAATCACTTGAAACCAGGAGGC		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding					2780		chr22	TogoVar
CEP126_chr11_101910010_102006062	102004895	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	68	0.0147	-32	c.72 others(43): Show c.7253_*7284delATATATATATATATATATATATATATATATAT		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding					3834		chr11	TogoVar
CEP128_chr14_80491479_80946738	80656273	TTTTATTT others(25): Show TTTTATTTATATATATATTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	147	0.0068	-32	c.280 others(53): Show c.2807-75882_2807-75851delTATATATATATATAAATATATATA TAAATAAA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(25): Show TTATTTATATATATATTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18952.hp1 HG02976.hp2 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0002 a0001c0014 a0002c0002	a0001c0014t0003 a0002c0002t0003 a0001c0014t0003 a0002c0002t0003	a0001c0014t0003g0151 a0002c0002t0003g0076 a0001c0014t0003g0151 a0002c0002t0003g0076	2	110	0.0182	-32	c.280 others(53): Show c.2807-75884_2807-75853delTATATATATATATATAAATATATA TATAAATA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80656279	TTATATAT others(25): Show TTATATATATATTTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG02040.hp1 others(9): Show HG00733.hp1 HG01243.hp1 HG02040.hp1 HG02083.hp2 HG02165.hp2 HG02559.hp2 HG02970.hp2 HG03516.hp1 HG03540.hp2 NA19009.hp2 NA19072.hp2 NA19086.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0001c0019 others(3): Show a0001c0001 a0001c0008 a0001c0019 a0001c0022 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0008t0005 a0001c0019t0002 a0001c0022t0005 a0002c0002t0003 a0002c0002t0004 a0003c0003t0006	a0001c0001t0001g0032 a0001c0001t0002g0104 a0001c0001t0002g0122 others(9): Show a0001c0001t0001g0032 a0001c0001t0002g0104 a0001c0001t0002g0122 a0001c0001t0003g0149 a0001c0001t0005g0043 a0001c0008t0005g0018 a0001c0019t0002g0123 a0001c0022t0005g0015 a0002c0002t0003g0088 a0002c0002t0003g0091 a0002c0002t0004g0083 a0003c0003t0006g0117	12	130	0.0923	-32	c.280 others(53): Show c.2807-75888_2807-75857delTATATATATATATATATATAAATA TATATATA		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	113	0.0088	-32	c.280 others(53): Show c.2806+13987_2806+14018delACACACACACACACACACACACAC ACACACCC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP128_chr14_80491479_80946738	80729058	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG03490.hp1 others(2): Show HG00642.hp2 HG01175.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0002g0112 a0003c0003t0002g0120	5	50	0.1000	-32	c.280 others(53): Show c.2806+13985_2806+14016delACACACACACACACACACACACAC ACACACAC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP170B_chr14_104860268_104901747	104889890	CTGGATGG others(25): Show CTGGATGGATGGACAAATGGATGGATGGATGGA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18995.hp2 NA18960.hp2 NA18995.hp2	a0010 a0025 a0010 a0025	a0010c0086 a0025c0085 a0010c0086 a0025c0085	a0010c0086t0002 a0025c0085t0002 a0010c0086t0002 a0025c0085t0002	a0010c0086t0002g0206 a0025c0085t0002g0209 a0010c0086t0002g0206 a0025c0085t0002g0209	2	326	0.0061	-32	c.387 others(49): Show c.3878+145_3878+176delCAAATGGATGGATGGATGGATGGATGGA TGGA		CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP290_chr12_88044016_88147088	88119062	TGGCTGTG others(25): Show TGGCTGTGATCTGATAGTCCAAGTTGATCAGAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show HG01109.hp1 HG01192.hp2 HG01243.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02896.hp2 HG02970.hp2 HG03579.hp1 HG03579.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0004 a0004c0005t0002 a0004c0005t0004	a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 a0004c0005t0002g0029 a0004c0005t0002g0032 a0004c0005t0002g0033 a0004c0005t0002g0034 a0004c0005t0002g0035 a0004c0005t0002g0036 a0004c0005t0002g0037 a0004c0005t0004g0214	13	232	0.0560	-32	c.152 others(49): Show c.1523-351_1523-320delTTCTGATCAACTTGGACTATCAGATCAC AGCC		CEP290	ENSG00000198707.17	transcript	ENST00000552810.6	protein_coding	15/53						chr12	TogoVar
CEP295_chr11_93656682_93735358	93726738	TATAGCCA others(25): Show TATAGCCATATTGTCCTTATTAAATATTAATAG	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0001 a0027c0039t0001	a0027c0039t0001g0301 a0027c0039t0001g0301	1	352	0.0028	-32	c.650 others(49): Show c.6500-236_6500-205delTAGCCATATTGTCCTTATTAAATATTAA TAGA		CEP295	ENSG00000166004.15	transcript	ENST00000325212.11	protein_coding	23/29					INFO_REALIGN_3_PRIME	chr11	TogoVar

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