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
ACSF3_chr16_89088852_89161233	89160351	CCCCCGCT others(107): Show CCCCCGCTTCCTCACCCGAAGACCCCCCGCTTCCTCACCCGAAGACCCCC CGCTTCCTCACCCGAAGACCCCCCGCTTCCTCACCCAAAGACCCCCCGCT TCCTTGCCCCGAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03486.hp1 NA19240.hp1 others(1): Show HG03453.hp2 HG03486.hp1 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 others(1): Show a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0005g0080	4	366	0.0109	-114	c.61 others(11): Show c.6145_*6258del	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding		4119		chr16	TogoVar
ADAMTS17_chr15_99966437_100346975	100313726	TGTCACCA others(107): Show TGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAACGTCACCATGAA GAAACGTCAGACAAAACCACCCCAAACGTCACCATGAAGAAACGTCAGAC AAAACCATCCCAAAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02895.hp1 others(4): Show HG02257.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0001c0007 a0001c0014 others(3): Show a0001c0005 a0001c0007 a0001c0014 a0002c0004 a0002c0064 a0003c0009	a0001c0005t0052 a0001c0007t0023 a0001c0014t0030 others(3): Show a0001c0005t0052 a0001c0007t0023 a0001c0014t0030 a0002c0004t0017 a0002c0064t0008 a0003c0009t0001	a0001c0005t0052g0222 a0001c0007t0023g0215 a0001c0014t0030g0001 others(4): Show a0001c0005t0052g0222 a0001c0007t0023g0215 a0001c0014t0030g0001 a0002c0004t0017g0128 a0002c0004t0017g0129 a0002c0064t0008g0127 a0003c0009t0001g0110	7	217	0.0323	-114	c.616 others(19): Show c.616+17049_616+17162del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100313833	TCCCAAAC others(107): Show TCCCAAACGTCACCATGAAGAAACGTCAGACAAAACCACCCCAAACGTCA CCATGAAGAAACGTCAGACAAAACCACCCCAAACGTCACCATGAAGAAAC GTCAGACAAAACCAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01516.hp1 others(9): Show HG00741.hp1 HG00741.hp2 HG01516.hp1 HG02040.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG03239.hp2 HG03471.hp2 HG03516.hp1 NA19043.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0038 a0002c0001 a0002c0004 others(6): Show a0001c0038 a0002c0001 a0002c0004 a0002c0065 a0003c0009 a0004c0003 a0004c0028 a0006c0016 a0009c0027	a0001c0038t0008 a0002c0001t0004 a0002c0001t0033 others(9): Show a0001c0038t0008 a0002c0001t0004 a0002c0001t0033 a0002c0004t0019 a0002c0065t0006 a0003c0009t0001 a0004c0003t0001 a0004c0003t0003 a0004c0028t0001 a0006c0016t0002 a0006c0016t0024 a0009c0027t0001	a0001c0038t0008g0192 a0002c0001t0004g0191 a0002c0001t0033g0010 others(9): Show a0001c0038t0008g0192 a0002c0001t0004g0191 a0002c0001t0033g0010 a0002c0004t0019g0048 a0002c0065t0006g0176 a0003c0009t0001g0218 a0004c0003t0001g0197 a0004c0003t0003g0012 a0004c0028t0001g0147 a0006c0016t0002g0194 a0006c0016t0024g0200 a0009c0027t0001g0196	12	186	0.0645	-114	c.616 others(19): Show c.616+16942_616+17055del	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129550024	ATATCTAG others(107): Show ATATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02717.hp2 NA18957.hp1 others(2): Show HG00438.hp1 HG02717.hp2 NA18957.hp1 NA19000.hp1 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0118 a0002c0002t0001g0060 a0002c0002t0001g0087 others(2): Show a0001c0001t0001g0118 a0002c0002t0001g0060 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0103	5	86	0.0581	-114	c.132 others(19): Show c.1329-1470_1329-1357del	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277861	CCCCCTGA others(107): Show CCCCCTGAGACCAAAGGCTGACCCCCCTGCGAGACCAAAGGCTGACCCCC CCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACCCCCTCC AAGACCAAAGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01433.hp2 HG02683.hp1 others(1): Show HG01257.hp2 HG01433.hp2 HG02683.hp1 HG03654.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0018	a0001c0018 a0004c0019 a0005c0011 others(1): Show a0001c0018 a0004c0019 a0005c0011 a0018c0071	a0001c0018t0002 a0004c0019t0003 a0005c0011t0003 others(1): Show a0001c0018t0002 a0004c0019t0003 a0005c0011t0003 a0018c0071t0005	a0001c0018t0002g0161 a0004c0019t0003g0180 a0005c0011t0003g0158 others(1): Show a0001c0018t0002g0161 a0004c0019t0003g0180 a0005c0011t0003g0158 a0018c0071t0005g0025	4	273	0.0147	-114	c.535 others(17): Show c.535-4911_535-4798del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238068	CTGCATCC others(107): Show CTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCT CCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02622.hp2 NA19011.hp2 HG02027.hp2 HG02622.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0055 a0002c0002t0004 a0001c0001t0001 a0001c0001t0055 a0002c0002t0004	a0001c0001t0001g0045 a0001c0001t0055g0089 a0002c0002t0004g0088 a0001c0001t0001g0045 a0001c0001t0055g0089 a0002c0002t0004g0088	3	106	0.0283	-114	c.136 others(19): Show c.1361+3949_1361+4062del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1560472	CACCCTGG others(107): Show CACCCTGGGTCGTCACACACGCGTGAACACACGGGGGGCACCCTGGGTCG TCACACACGCGTGAACACACGGGGGGCACCCTGGGTCGTCACACACGCGT GAACACACGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(63): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02257.hp1 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18967.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19086.hp1 NA19086.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010	a0001c0001 a0001c0003 a0002c0002 others(8): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0016 a0003c0006 a0004c0005 a0006c0009 a0008c0008 a0009c0015 a0010c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(47): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0003t0009 a0001c0003t0040 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0027 a0002c0002t0042 a0002c0002t0043 a0002c0002t0044 a0002c0002t0048 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0004t0005 a0002c0004t0028 a0002c0016t0006 a0003c0006t0003 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0006c0009t0024 a0008c0008t0016 a0009c0015t0014 a0010c0012t0007	a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 others(63): Show a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0012g0009 a0001c0001t0012g0024 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0025g0036 a0001c0001t0029g0031 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0036g0072 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0061g0087 a0001c0003t0009g0046 a0001c0003t0040g0073 a0002c0002t0002g0043 a0002c0002t0002g0050 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0006g0018 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0008g0047 a0002c0002t0027g0021 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0044g0049 a0002c0002t0048g0068 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0005g0029 a0002c0004t0028g0020 a0002c0016t0006g0010 a0003c0006t0003g0090 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0006c0009t0024g0016 a0008c0008t0016g0003 a0009c0015t0014g0008 a0010c0012t0007g0006	66	106	0.6226	-114	c.100 others(21): Show c.100+176465_100+176578del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRD1_chr12_130948907_131146469	131032725	TTTATTAG others(107): Show TTTATTAGAGAAATCGCCACCCCGTCACAGAGGTGACGCTTATTAGAGAA ATCGCCACCCCGTCACAGAGGTGACGCTTATTAGAGAAATCGCCACCCCG TCACAGAGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0084 a0001c0002t0046g0084	1	127	0.0079	-114	c.147 others(21): Show c.1473+18569_1473+18682del	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
AGBL1_chr15_86074871_86921156	86827335	ATATGTGT others(107): Show ATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATAC ACATATATATATACATATATATATGTGTATATATATATATATATACACAT ATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02717.hp2 HG03710.hp2 others(1): Show HG01070.hp1 HG02717.hp2 HG03710.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0015 a0001c0051 others(1): Show a0001c0003 a0001c0015 a0001c0051 a0002c0021	a0001c0003t0002 a0001c0015t0003 a0001c0051t0033 others(1): Show a0001c0003t0002 a0001c0015t0003 a0001c0051t0033 a0002c0021t0019	a0001c0003t0002g0017 a0001c0015t0003g0099 a0001c0051t0033g0060 others(1): Show a0001c0003t0002g0017 a0001c0015t0003g0099 a0001c0051t0033g0060 a0002c0021t0019g0065	4	118	0.0339	-114	c.315 others(21): Show c.3159-79748_3159-79635del	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGMO_chr7_15195317_15567015	15322613	AATATATA others(107): Show AATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATGTATATATAAATATATGAATATGTATAAATATATA TAAATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	1	234	0.0043	-114	c.126 others(21): Show c.1263+42787_1263+42900del	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AHRR_chr5_316714_443285	345256	GGGGAGAG others(107): Show GGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCTGGCTGTGT GTGGGGATGTGTGTGTGTGTGTGTGTGGGGATGTGTGTGTGTGTGTGTCG GATGATGTCCCTGGC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02273.hp1 HG02723.hp2 others(2): Show HG02257.hp2 HG02273.hp1 HG02723.hp2 NA19240.hp2 NA20300.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0013 a0004c0003t0027 others(1): Show a0004c0003t0007 a0004c0003t0013 a0004c0003t0027 a0004c0003t0037	a0004c0003t0007g0234 a0004c0003t0013g0221 a0004c0003t0013g0233 others(2): Show a0004c0003t0007g0234 a0004c0003t0013g0221 a0004c0003t0013g0233 a0004c0003t0027g0099 a0004c0003t0037g0240	5	266	0.0188	-114	c.62+ others(15): Show c.62+1293_62+1406del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10			chr5	TogoVar
AHRR_chr5_316714_443285	394274	ACCCTCTT others(107): Show ACCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0055 a0001c0001t0040g0055	1	170	0.0059	-114	c.351 others(19): Show c.351+17824_351+17937del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AJAP1_chr1_4649609_4797534	4702085	CATGTGTC others(107): Show CATGTGTCCCCAGTATTCTAACGTGTCCCCAGTATTCCAACGTGTCCCCA GTGTTCTCATGTGTCCCCAGTATTCTAACATGTCCCCAATATTCCAGCGT GTCCCCAGTGTTCTA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0163 a0001c0002t0163	a0001c0002t0163g0008 a0001c0002t0163g0008	1	332	0.0030	-114	c.30- others(15): Show c.30-9805_30-9692del	AJAP1	ENSG00000196581.11	transcript	ENST00000378191.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132821805	GTGTATGT others(107): Show GTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAATAT ATACATATATGTGTATGTATATACAAATATATACATATATGTGTATGTAT ATACAAATATATACA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18965.hp1 HG02559.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0080 a0001c0001t0001g0037 a0001c0001t0001g0080	2	203	0.0099	-114	c.889 others(17): Show c.889+1286_889+1399del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ALG6_chr1_63362627_63443553	63400235	ATATATAT others(107): Show ATATATATACGTATATATATGTATATATATATACGTATATATATATACGT ATATATATATACGTATATATATGTATATATATATACGTATATATATATAT ACGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	385	0.0026	-114	c.168 others(17): Show c.168-2010_168-1897del	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132733082	CGCACCGT others(107): Show CGCACCGTGTGAAGCTCTCTGCGTCCTGGTGTCTGATATGCACCGTGTGA AGCACTGCGCGTCCTGGTGTCTGATATGCACCGTGTGAAGCTCTCTGCGT GCTGGTGTCTGATAT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	348	0.0029	-114	c.189 others(19): Show c.1891+1189_1891+1302del	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	10/12			chr12	TogoVar
ANKRD11_chr16_89262630_89495561	89400031	CCGGTCAT others(107): Show CCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	276	0.0036	-114	c.-60 others(19): Show c.-60+18139_-60+18252del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400412	CGGTCATC others(107): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02129.hp2 HG02698.hp2 others(1): Show HG01433.hp2 HG02129.hp2 HG02698.hp2 HG03688.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0044 a0001c0001 a0002c0002 a0006c0044	a0001c0001t0002 a0002c0002t0002 a0006c0044t0002 a0001c0001t0002 a0002c0002t0002 a0006c0044t0002	a0001c0001t0002g0055 a0002c0002t0002g0141 a0002c0002t0002g0262 others(1): Show a0001c0001t0002g0055 a0002c0002t0002g0141 a0002c0002t0002g0262 a0006c0044t0002g0142	4	305	0.0131	-114	c.-60 others(19): Show c.-60+17758_-60+17871del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400449	ACGGTCAT others(107): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp2 HG02055.hp1 others(2): Show HG00438.hp1 HG01891.hp2 HG02055.hp1 HG03471.hp2 HG03540.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0010c0014	a0001c0001t0001 a0002c0002t0002 a0004c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0004c0004t0001 a0010c0014t0003	a0001c0001t0001g0018 a0002c0002t0002g0270 a0004c0004t0001g0163 others(2): Show a0001c0001t0001g0018 a0002c0002t0002g0270 a0004c0004t0001g0163 a0010c0014t0003g0089 a0010c0014t0003g0271	5	192	0.0260	-114	c.-60 others(19): Show c.-60+17721_-60+17834del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
APEX1_chr14_20450226_20462767	20460238	TAAGGAGA others(107): Show TAAGGAGACAGTTACAGGGGCATCGAACATATTTTTTCCCTGGGGGTGCA TTCTTGATTGGCTAGAGAATAATAGGGTCATCAGCAAGCAAACCTCTAAT CCCAATCCCCTCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	468	0.0021	-114	c.27 others(11): Show c.2731_*2844del	APEX1	ENSG00000100823.12	transcript	ENST00000216714.8	protein_coding		2472		chr14	TogoVar
ARHGAP45_chr19_1062167_1091628	1063031	ACCCCATA others(107): Show ACCCCATACTCATGCTGTCTCCACCCACACCATGGCCCTGCCCCATACTC ATGCTGGCTCTACCCACACCATGGCCCCGCCGCATACTCATGCTGGCTCC ACCAGTGTGGCCCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	384	0.0026	-114	c.-43 others(11): Show c.-4374_-4261del	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4135		chr19	TogoVar
ATP8A2_chr13_25366974_26030851	25425469	TTTTTTTT others(107): Show TTTTTTTTTTTTGAGATGGAGTCTCGCTCTAGTACTGGATCTCTAGTACT TGCAAGACGTCATAAATTTGAAATCATACAGTATGCAGCCTTTTCAGATT GGCTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01070.hp1 others(30): Show HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01358.hp2 HG01496.hp2 HG02015.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp2 NA18952.hp2 NA18977.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19091.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(25): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0051 a0001c0001t0072 a0001c0001t0074 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0020 a0001c0002t0029 a0001c0002t0031 a0001c0003t0018 a0001c0003t0027 a0001c0004t0002 a0001c0004t0004 a0001c0004t0022 a0001c0006t0020 a0001c0010t0012 a0001c0010t0056 a0001c0015t0008 a0001c0016t0045 a0001c0017t0036 a0001c0020t0019	a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 others(30): Show a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0015g0016 a0001c0001t0016g0104 a0001c0001t0018g0041 a0001c0001t0025g0009 a0001c0001t0051g0053 a0001c0001t0072g0027 a0001c0001t0074g0116 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0060 a0001c0002t0001g0083 a0001c0002t0002g0037 a0001c0002t0009g0042 a0001c0002t0020g0097 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0004g0048 a0001c0004t0022g0054 a0001c0006t0020g0085 a0001c0010t0012g0090 a0001c0010t0056g0002 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0017t0036g0019 a0001c0020t0019g0067	33	120	0.2750	-114	c.77- others(17): Show c.77-43498_77-43385del	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GALT1_chr2_167288001_167879045	167875983	ACACGTAT others(107): Show ACACGTATATATATATATACGTATATATATATATACGTATATATATATAT ACGTATATATATATATATACGTATATATATATATGTATATATATATATAC GTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0072 a0001c0001t0028g0072	1	107	0.0093	-114	c.59 others(11): Show c.5964_*6077del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1939		chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167876000	TACGTATA others(107): Show TACGTATATATATATATACGTATATATATATATACGTATATATATATATA TACGTATATATATATATGTATATATATATATACGTATATATATATATGTA TATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	113	0.0088	-114	c.59 others(11): Show c.5981_*6094del	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1956		chr2	TogoVar
B3GNTL1_chr17_82937149_83056770	83003066	TCCCACTC others(107): Show TCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCC CTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCG TGTGGGATTCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp1 HG03516.hp2 HG02486.hp1 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0039 a0001c0006t0018 a0001c0001t0002 a0001c0001t0039 a0001c0006t0018	a0001c0001t0002g0134 a0001c0001t0039g0259 a0001c0006t0018g0017 a0001c0001t0002g0134 a0001c0001t0039g0259 a0001c0006t0018g0017	3	266	0.0113	-114	c.459 others(17): Show c.459+1935_459+2048del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	384901	ACACAGCT others(107): Show ACACAGCTGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0006 a0001c0003 a0002c0002 a0003c0006	a0001c0003t0001 a0002c0002t0001 a0003c0006t0001 a0001c0003t0001 a0002c0002t0001 a0003c0006t0001	a0001c0003t0001g0129 a0002c0002t0001g0063 a0003c0006t0001g0065 a0001c0003t0001g0129 a0002c0002t0001g0063 a0003c0006t0001g0065	3	111	0.0270	-114	c.31 others(11): Show c.3110_*3223del	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
BPTF_chr17_67820503_67989378	67870694	AGGAATTT others(107): Show AGGAATTTCAGAATTGTAGCCTGTCTGATGACTTTGACTTGATGTTAACC TCTCAAAGAAAATGCTTCATTTCTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	272	0.0037	-114	c.166 others(19): Show c.1660+4009_1661-4008del	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRSK1_chr19_55278997_55317562	55286040	TGGGGGTC others(107): Show TGGGGGTCTGGAGTGCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAG TGCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAGTGCTGGGTCTGAG GGAGGAAGGGGCTGG	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03831.hp1 HG04115.hp2 HG03654.hp2 HG03831.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0028 a0001c0001t0002 a0001c0002t0028	a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0002t0028g0259 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0002t0028g0259	3	139	0.0216	-114	c.137 others(15): Show c.137-961_137-848del	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BTBD2_chr19_1980448_2020714	2015866	CGGGAAGG others(107): Show CGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAAGGAGGGGGAAGGAGGG AGGGGAGGAGAGGGAGGGGAAAGGAGGGGGAAGGAGGGAGGGGAGGAGAG GGAGGGGAAAGGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00735.hp1 others(80): Show HG00099.hp1 HG00280.hp2 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18985.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19067.hp1 NA19074.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0012	a0001c0001 a0001c0003 a0001c0035 others(15): Show a0001c0001 a0001c0003 a0001c0035 a0002c0002 a0002c0005 a0002c0008 a0002c0016 a0002c0024 a0002c0026 a0002c0028 a0003c0004 a0003c0006 a0005c0010 a0005c0013 a0005c0018 a0005c0031 a0005c0032 a0012c0022	a0001c0001t0015 a0001c0003t0001 a0001c0035t0001 others(26): Show a0001c0001t0015 a0001c0003t0001 a0001c0035t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0005t0001 a0002c0005t0002 a0002c0005t0006 a0002c0005t0020 a0002c0008t0001 a0002c0008t0016 a0002c0016t0001 a0002c0024t0001 a0002c0026t0001 a0002c0028t0001 a0003c0004t0002 a0003c0006t0001 a0003c0006t0004 a0005c0010t0001 a0005c0010t0002 a0005c0010t0005 a0005c0010t0007 a0005c0013t0002 a0005c0018t0001 a0005c0031t0014 a0005c0032t0023 a0012c0022t0005	a0001c0001t0015g0237 a0001c0003t0001g0238 a0001c0003t0001g0332 others(78): Show a0001c0001t0015g0237 a0001c0003t0001g0238 a0001c0003t0001g0332 a0001c0035t0001g0331 a0002c0002t0001g0002 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0037 a0002c0002t0001g0057 a0002c0002t0001g0083 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0002t0002g0020 a0002c0002t0002g0071 a0002c0002t0002g0084 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0097 a0002c0002t0003g0023 a0002c0002t0003g0093 a0002c0002t0019g0072 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0025 a0002c0005t0001g0034 a0002c0005t0001g0039 a0002c0005t0001g0040 a0002c0005t0001g0099 a0002c0005t0001g0109 a0002c0005t0001g0110 a0002c0005t0002g0027 a0002c0005t0002g0029 a0002c0005t0002g0030 a0002c0005t0002g0031 a0002c0005t0002g0033 a0002c0005t0002g0041 a0002c0005t0002g0042 a0002c0005t0002g0085 a0002c0005t0002g0100 a0002c0005t0002g0104 a0002c0005t0002g0105 a0002c0005t0006g0086 a0002c0005t0020g0038 a0002c0008t0001g0061 a0002c0008t0001g0067 a0002c0008t0001g0069 a0002c0008t0001g0101 a0002c0008t0001g0102 a0002c0008t0001g0103 a0002c0008t0016g0070 a0002c0016t0001g0088 a0002c0024t0001g0016 a0002c0026t0001g0043 a0002c0028t0001g0091 a0003c0004t0002g0142 a0003c0006t0001g0140 a0003c0006t0001g0141 a0003c0006t0004g0136 a0003c0006t0004g0137 a0003c0006t0004g0139 a0005c0010t0001g0117 a0005c0010t0001g0118 a0005c0010t0002g0125 a0005c0010t0002g0126 a0005c0010t0005g0114 a0005c0010t0007g0113 a0005c0010t0007g0115 a0005c0010t0007g0116 a0005c0013t0002g0003 a0005c0013t0002g0119 a0005c0013t0002g0120 a0005c0018t0001g0124 a0005c0031t0014g0122 a0005c0032t0023g0121 a0012c0022t0005g0014	83	351	0.2365	-114	c.-27 others(9): Show c.-277_-164del	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		153		chr19	TogoVar
BZW2_chr7_16641181_16711517	16672856	ACTTCTGC others(107): Show ACTTCTGCAGACTCATGTGTCCATTTCACTGTGACAGCTCATTTATGCTT TTCATGTGTGCCTTTGTGATTGCTCTGTGTTTGTCTTATCCACTTTCTTT TTTTTTTTGAAACGG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0299 a0001c0004t0002g0299	1	416	0.0024	-114	c.59- others(15): Show c.59-1555_59-1442del	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding	2/11			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122645361	GTACATGT others(107): Show GTACATGTATACACACATATGTACATGTGTGTGTATATATGTACATATAC ACACATGTATATGTGTGTATATATGTATATATACACACACATATGTATAT ATGTGTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01167.hp2 others(9): Show HG00280.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp1 HG01346.hp2 HG01978.hp1 HG02683.hp2 HG03239.hp1 HG03669.hp1 HG06807.hp2 NA18522.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0003g0031 a0001c0001t0009g0029 a0001c0002t0002g0114 a0001c0003t0001g0110	12	124	0.0968	-114	c.787 others(19): Show c.787-16147_787-16034del	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	3/29			chr7	TogoVar
CANT1_chr17_78986716_79014764	79004327	GGAGGTTA others(107): Show GGAGGTTAGGGAGGGGAGTTAGGGAGAGGGGGGTTAGGGAGAGGGGGGTT AGGGAGAAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGG GGGGAGTTAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp2 HG06807.hp2 others(1): Show HG01243.hp1 HG02965.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0043 a0001c0002t0005g0152 a0001c0002t0005g0154 a0001c0002t0005g0043 a0001c0002t0005g0152 a0001c0002t0005g0154	4	392	0.0102	-114	c.-14 others(19): Show c.-147+5223_-147+5336del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79004383	AAGGGAGT others(107): Show AAGGGAGTTAGGGAGGGGAGTTAGGGAGAGGGGAGTTAGGGAGGGGGGAG TTAGGGAGAGGAGTTAAGGAGAGGGGAGTTAGGGAGGGGAGTTAGGGAGA GGGGAGTTAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18747.hp1 NA18612.hp2 NA18747.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0074 a0001c0003t0002g0066 a0001c0003t0002g0074	2	391	0.0051	-114	c.-14 others(19): Show c.-147+5167_-147+5280del	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88954552	GCCAAGGC others(107): Show GCCAAGGCTCCTGACCCTACCCAAGGCTCCTGACCCCGCCCAAGGCTCCT GACCTCAGCCAAGGCTCCTGACTCCACCCAAGGCTCCTGACCTCAGCCAA GGCTCCTGACCCTAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp1 NA19004.hp2 others(2): Show HG00280.hp1 HG03239.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0001 a0001c0003t0004	a0001c0001t0001g0014 a0001c0001t0001g0268 a0001c0003t0001g0246 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0268 a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233	5	281	0.0178	-114	c.151 others(19): Show c.151+21991_151+22104del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955023	TCCACCCA others(107): Show TCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGC TCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGACTCCTGACCCCAC CCAAGGCTCCTGACC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0283 a0001c0002t0035g0283	1	279	0.0036	-114	c.151 others(19): Show c.151+21520_151+21633del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955806	CCCAAGGC others(107): Show CCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACCTCACCCAAGGCTCCT GACCCCACCCAAGGCTCCTGACCCCAGCCAAGTCTCCTGACCCCGCCCAA GGCTCCTGACCCCAG	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0166 a0001c0008t0014g0166	1	282	0.0035	-114	c.151 others(19): Show c.151+20737_151+20850del	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCL17_chr16_57399767_57421063	57403204	AATATATA others(107): Show AATATATATAATATATATTATTATCTATAATATATATAATATATATTATT ATCTATAATATATATAATATATATTATTATCTATAATATATATAATATAT ATTATTATCTATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	338	0.0030	-114	c.-16 others(11): Show c.-1691_-1578del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1562		chr16	TogoVar
CCL17_chr16_57399767_57421063	57403232	AATATATA others(107): Show AATATATATAATATATATTATTATCTATAATATATATAATATATATTATT ATCTATAATATATATAATATATATTATTATCTATAATATATATAATATAT ATTATTATCTATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02647.hp1 HG02717.hp2 others(4): Show HG02615.hp2 HG02647.hp1 HG02717.hp2 HG03471.hp1 NA18906.hp1 NA18906.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0002c0002t0001g0015 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0065	7	384	0.0182	-114	c.-16 others(11): Show c.-1663_-1550del	CCL17	ENSG00000102970.11	transcript	ENST00000219244.9	protein_coding		1534		chr16	TogoVar
CD226_chr18_69848274_69952873	69905230	CATCAGCT others(107): Show CATCAGCTCCAAGGATGCCTCTGCTCCTAGATAGCTTATTTTCTGATGCC TTAACTCTTATAATTAGAAATCAATTTCTGCACTTGTCCTTGTTAAAATG CATATAAAATTTTCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG02486.hp1 HG01081.hp2 HG02451.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0056 a0002c0002t0025 a0002c0002t0056	a0002c0002t0025g0026 a0002c0002t0025g0027 a0002c0002t0056g0028 a0002c0002t0025g0026 a0002c0002t0025g0027 a0002c0002t0056g0028	3	254	0.0118	-114	c.383 others(17): Show c.383-9299_383-9186del	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	2/5			chr18	TogoVar
CD7_chr17_82309873_82322608	82315856	TGCACACG others(107): Show TGCACACGCGGGCCCAGCGCCTGGGCGCTCCCTCCTCTGCCCGCACACTC CAACCTGCACGCACAGACCTCAGAGATCCCCCCTCAGACACTCACACCTG CACACGCGCACACGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp2 NA19030.hp1 HG03195.hp1 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	414	0.0072	-114	c.612 others(15): Show c.612+225_612+338del	CD7	ENSG00000173762.8	transcript	ENST00000312648.8	protein_coding	3/3			chr17	TogoVar
CDC16_chr13_114229897_114277723	114231249	CGGTGGGG others(107): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG03209.hp2 others(2): Show HG01891.hp1 HG02622.hp2 HG03209.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	5	316	0.0158	-114	c.-38 others(11): Show c.-3835_-3722del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3647		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231306	AGGTGGGG others(107): Show AGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01243.hp1 HG03471.hp1 others(2): Show HG00140.hp1 HG01243.hp1 HG03471.hp1 NA19030.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 a0001c0001t0001 a0001c0002t0002 a0001c0004t0003	a0001c0001t0001g0006 a0001c0002t0002g0047 a0001c0002t0002g0196 others(2): Show a0001c0001t0001g0006 a0001c0002t0002g0047 a0001c0002t0002g0196 a0001c0002t0002g0221 a0001c0004t0003g0010	5	242	0.0207	-114	c.-37 others(11): Show c.-3778_-3665del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3590		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231338	GGGGTGGA others(107): Show GGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGC	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG03139.hp2 others(1): Show HG01243.hp2 HG02258.hp2 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0017 a0001c0002t0008g0019 a0001c0002t0002g0017 a0001c0002t0008g0019	4	258	0.0155	-114	c.-37 others(11): Show c.-3747_-3634del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3559		chr13	TogoVar
CDC16_chr13_114229897_114277723	114238090	CAGGGCCT others(107): Show CAGGGCCTGAAGTGGAGCTGCTGCGATCTCCTTGGACGCCCAGCAGTTAT TCACACTCAGTGCCTGAAGTGGAGCTGCTGTGAGCTCCTCGGACGCCCAG CAGTTATTCACACTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03471.hp1 HG00733.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0195 a0001c0002t0002g0196	2	375	0.0053	-114	c.202 others(15): Show c.202-868_202-755del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC16_chr13_114229897_114277723	114238435	GGCCTGAA others(107): Show GGCCTGAAGTGGAGCTGCTGCGAGCTCCTCGGACGCCCAGCAGTTATTCA CACTCAGGGCCTGAAGTGGAGCTGCTGCGATCTCCTCGGACGCCCAGCAG TTATTCACACTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02965.hp1 HG01891.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	366	0.0055	-114	c.202 others(15): Show c.202-532_202-419del	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC34_chr19_526760_547087	540275	CGGTTTAG others(107): Show CGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGG TGGCCAGGCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02257.hp1 others(4): Show HG01243.hp2 HG01891.hp1 HG02257.hp1 HG02257.hp2 HG03195.hp1 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091	7	96	0.0729	-114	c.498 others(15): Show c.498-760_498-647del	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH18_chr5_19466296_19993200	19849629	TATATATA others(107): Show TATATATACACGCATATATATATAAACATATATATATACACGCATATATA TATAAACATATATATATACACGCATATATATATAAACATATATATATACA CGCATATATATAAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(19): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG01175.hp2 HG01515.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG03017.hp2 HG03239.hp2 HG03453.hp2 HG03669.hp2 HG03710.hp2 NA18966.hp1 NA18968.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 a0001c0001 a0001c0003 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0003t0001 a0001c0003t0003 a0003c0011t0001	a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0051 others(19): Show a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0002g0068 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0006g0040 a0001c0001t0016g0018 a0001c0001t0019g0039 a0001c0001t0020g0041 a0001c0001t0026g0002 a0001c0003t0001g0001 a0001c0003t0001g0047 a0001c0003t0001g0058 a0001c0003t0001g0106 a0001c0003t0001g0114 a0001c0003t0003g0107 a0003c0011t0001g0082	22	135	0.1630	-114	c.-25 others(21): Show c.-256-10501_-256-10388del	CDH18	ENSG00000145526.12	transcript	ENST00000382275.6	protein_coding	2/12			chr5	TogoVar
CDK12_chr17_39456486_39539544	39499075	CTTTCTTT others(107): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0071 a0001c0001t0027g0071	1	257	0.0039	-114	c.242 others(19): Show c.2420-2173_2420-2060del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CEP350_chr1_179949810_180119875	179981762	CTGAGGTG others(107): Show CTGAGGTGGGAGGATCACTTGAACCCACGAATTTGAGGCCAGCCTGGGCA ACATAGTGAGACCTCATCTCTATAAAAATAAAAAAAAAATTAACCGGCCA TGGTGGTGTGTACCT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	246	0.0041	-114	c.-13 others(17): Show c.-13-4406_-13-4293del	CEP350	ENSG00000135837.17	transcript	ENST00000367607.8	protein_coding	1/37			chr1	TogoVar
CIRBP_chr19_1264332_1279810	1279164	AAGGAACC others(107): Show AAGGAACCTTTCTGGGAACACCTTCTCGCCGGGCTGGGAACAATAAATGC AGCCATGTCTCTGCAGCTGGTGCTGACCCCATGCCACCTCTAGACCCGTG CGTACTGGTGCAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	-114	c.67 others(11): Show c.6722_*6835del	CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding		4355		chr19	TogoVar

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