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	61283333	C C	CGTGTGTG others(197): Show CGTGTGTGATGTGCGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TGCGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTGAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp1 HG02723.hp1 HG01255.hp1 HG02622.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0006 a0001c0006t0026 a0001c0001t0001 a0001c0006t0006 a0001c0006t0026	a0001c0001t0001g0029 a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0001t0001g0029 a0001c0006t0006g0036 a0001c0006t0026g0034	3	39	0.0769	204	c.169 others(223): Show c.169+28403_169+28404insATGTGCGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTGCGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGATGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61283333	C C	CGTGTGTG others(197): Show CGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATG TGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTT GCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTG CTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGT GTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02965.hp1 HG04115.hp2 others(1): Show HG00408.hp2 HG02965.hp1 HG04115.hp2 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0004c0025	a0001c0001t0030 a0002c0002t0011 a0002c0005t0005 others(1): Show a0001c0001t0030 a0002c0002t0011 a0002c0005t0005 a0004c0025t0001	a0001c0001t0030g0089 a0002c0002t0011g0082 a0002c0005t0005g0103 others(1): Show a0001c0001t0030g0089 a0002c0002t0011g0082 a0002c0005t0005g0103 a0004c0025t0001g0100	4	40	0.1000	204	c.169 others(223): Show c.169+28403_169+28404insATGTGTGTGCGTTTGCACGCGCGTGC TGTGGCGTGTGTGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTG TGATGTGTGTGCGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTG CGTTTGCACGCGCGTGCTGTGGCGTGTGTGATGTGTGTGCGTTTGCACGC GCGTGCTGTGGCGTGTGTGATGTGTGTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(197): Show ATATATATGAATATATGATATATATGAATATGTGATATATATGAATATAT GTGATATATATGAATATATGATATATATGAATATGTGTGATATATAAATA TAGATGAGATATATGGTATATATGATATAGATGAGATATATGAGATATAT ATGATATATCATATATATGAATATATATGATATATAATATATATGAATAT ATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp1 HG02145.hp2 others(7): Show HG01243.hp1 HG01255.hp1 HG02145.hp2 HG02559.hp2 HG02630.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03540.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0003t0038 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 a0001c0006t0026 a0002c0002t0004 a0002c0004t0001	a0001c0001t0001g0006 a0001c0003t0001g0037 a0001c0003t0038g0081 others(7): Show a0001c0001t0001g0006 a0001c0003t0001g0037 a0001c0003t0038g0081 a0001c0003t0039g0063 a0001c0003t0041g0086 a0001c0006t0026g0034 a0002c0002t0004g0022 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0033	10	100	0.1000	204	c.169 others(225): Show c.169+128216_169+128217insTATATATGAATATATGATATATAT GAATATGTGATATATATGAATATATGTGATATATATGAATATATGATATA TATGAATATGTGTGATATATAAATATAGATGAGATATATGGTATATATGA TATAGATGAGATATATGAGATATATATGATATATCATATATATGAATATA TATGATATATAATATATATGAATATATATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61383153	A A	ATATATAT others(197): Show ATATATATGAATATATGATATATATGAATATGTGATATATATGAATATAT GTGATATATATGAATATATGATATATATGAATATGTGTGATATATAAATA TAGATGAGATATATGGTATATATGATATAGATGAGATATATGGTATATAT ATGATATATCATATATATGAATATATATGATATATAATATATATGAATAT ATATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02965.hp1 HG03516.hp2 HG01123.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 a0001c0001t0002 a0001c0001t0017 a0001c0001t0030	a0001c0001t0002g0088 a0001c0001t0017g0030 a0001c0001t0030g0089 a0001c0001t0002g0088 a0001c0001t0017g0030 a0001c0001t0030g0089	3	93	0.0323	204	c.169 others(225): Show c.169+128216_169+128217insTATATATGAATATATGATATATAT GAATATGTGATATATATGAATATATGTGATATATATGAATATATGATATA TATGAATATGTGTGATATATAAATATAGATGAGATATATGGTATATATGA TATAGATGAGATATATGGTATATATATGATATATCATATATATGAATATA TATGATATATAATATATATGAATATATATG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(197): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0011 a0001c0002t0007g0011	1	415	0.0024	204	c.12 others(215): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CEP170B_chr14_104860268_104901747	104884806	T T	TGATGCCG others(197): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAG GCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGA GGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGG AGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTG GAGGC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0006 a0006	a0006c0030 a0006c0030	a0006c0030t0002 a0006c0030t0002	a0006c0030t0002g0176 a0006c0030t0002g0176	1	229	0.0044	204	c.177 others(221): Show c.1770+301_1770+302insTGGAGGCGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTG AGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGT GAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAACGGGGGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP170B_chr14_104860268_104901747	104884909	T T	TGATGCCG others(197): Show TGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAG GCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGA GGCGATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGG AGGCGATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTG GAGGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0006 a0004c0021t0006	a0004c0021t0006g0232 a0004c0021t0006g0232	1	291	0.0034	204	c.177 others(221): Show c.1770+385_1770+386insCCTCGTGGGGAACGGGGGGTGGAGGCGA TGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGGCG ATGCCGGGGGTGGCGAGTGAGAGCACTCGTGGGGAACGGGGGGTGGAGGC GATGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAATCGGGGGTGGAGG CGATGCCGGGGGTGGCGAGTGAGAGC	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CFAP46_chr10_132803392_132947570	132851869	G G	GGAATTCT others(197): Show GGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACTT AGGAATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTACT TAGGAATTCTCAGATCCTGATCCACAGACCTGGTATGTTCCTCCATTTAC TTAGACATTCTCAGATCCTGATCCACAGACGTGGTATGTTCCTCCATTTA CTTAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01074.hp2 others(12): Show HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01255.hp2 HG01256.hp2 HG01517.hp2 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp2 HG03239.hp2 HG03669.hp1 HG04184.hp1 NA18945.hp1	a0006 a0024 a0040 others(3): Show a0006 a0024 a0040 a0045 a0057 a0066	a0006c0004 a0024c0017 a0040c0087 others(3): Show a0006c0004 a0024c0017 a0040c0087 a0045c0107 a0057c0104 a0066c0046	a0006c0004t0002 a0024c0017t0001 a0040c0087t0003 others(3): Show a0006c0004t0002 a0024c0017t0001 a0040c0087t0003 a0045c0107t0002 a0057c0104t0001 a0066c0046t0001	a0006c0004t0002g0025 a0006c0004t0002g0106 a0006c0004t0002g0107 others(12): Show a0006c0004t0002g0025 a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0111 a0006c0004t0002g0113 a0006c0004t0002g0116 a0024c0017t0001g0197 a0024c0017t0001g0201 a0040c0087t0003g0112 a0045c0107t0002g0103 a0057c0104t0001g0236 a0066c0046t0001g0181	15	244	0.0615	204	c.557 others(221): Show c.5575-768_5575-565dupTTAAGTAAATGGAGGAACATACCACGTC TGTGGATCAGGATCTGAGAATGTCTAAGTAAATGGAGGAACATACCAGGT CTGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCACG TCTGTGGATCAGGATCTGAGAATTCCTAAGTAAATGGAGGAACATACCAC GTCTGTGGATCAGGATCTGAGAATTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	39/57			chr10	TogoVar
CFD_chr19_854664_868641	866617	G G	GCCAGCGC others(197): Show GCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACCCCT CACCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCCC TCGCCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCCACGGGCCTGCACCC CTCGCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCGCAGGCCCGCACC CCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	278	0.0036	204	c.33 others(215): Show c.3379_*3380insCCAGCGCTCCCATCTCCTCCCTGTCCACCCACCG CAGGCCCGCACCCCTCACCAGCGCTCCCATCTCCTCCCCGTCCGCCCGCC ACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCGCCCGC CACGGGCCTGCACCCCTCGCCAGCGCTCCCATCTCCTCCCTGTCCACCCA CCGCAGGCCCGCACCCCTCA	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2977		chr19	TogoVar
CFD_chr19_854664_868641	866631	G G	GTCCTCCC others(197): Show GTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCACCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCC CATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCAGCGCTC CCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	271	0.0037	204	c.33 others(215): Show c.3393_*3394insTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCC TCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCC CTCACCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACC CCTCGCCAGCGCTCCCATCTCCTCCCTGTCCGCCCACCGCAGGCCCGCAC CCCTCACCAGCGCTCCCATC	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		2991		chr19	TogoVar
CFD_chr19_854664_868641	866688	C C	CCTGTCCG others(197): Show CCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCAGCGCTCCCATGTCCT CCCCGTCCACCCGCCGCGGGCCCACACCCCTCACCAGCGCTCCCATCTCC TCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCACCAGCGCTCCCATCTC CTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCT CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG03927.hp1 HG02738.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	2	265	0.0075	204	c.34 others(215): Show c.3450_*3451insCTGTCCGCCCACCGCAGGCCCGCACCCCTCACCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCACACCCCTCACC AGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCAC CAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCG CCAGCGCTCCCATCTCCTCT	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3048		chr19	TogoVar
CHST5_chr16_75523530_75541108	75526189	G G	GTGTGCAT others(197): Show GTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGT GTGCATGTGAGTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGT GCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGTGC ATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGTGTGCAT GTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02055.hp1 others(1): Show HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02280.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0005 a0004c0006t0017 a0001c0003t0005 a0004c0006t0017	a0001c0003t0005g0011 a0004c0006t0017g0064 a0004c0006t0017g0065 a0001c0003t0005g0011 a0004c0006t0017g0064 a0004c0006t0017g0065	4	385	0.0104	204	c.29 others(215): Show c.2959_*2960insGTCACATGCACACACACATGCACACTCACATGCA CACTCACATGCACACACACATGCACACTCACATGCACACTCACATGCACA CTCACATGCACACTCACATGCACACTCACATGCACACTCACATGCACACA CACATGCACACTCACATGCACACACACATGCACACTCACATGCACACTCA CATGCACACACACATGCACA	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2340		chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575636	A A	ACTCATAT others(197): Show ACTCATATACATGTGTATATACACACGTATACTCATATACATGTGTATAT ACACACGTATACTCATATACATGTGTATATACACACGTATACTCATATAC ATGTGTATATACACACGTATACTCATATACATGTGTATATACACACGTAT ACTCATATACATGTGTATATACACACGTATACTCATATACATGTGTATAT ACACG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0288 a0005c0006t0007g0288	1	367	0.0027	204	c.894 others(219): Show c.894+634_894+635insCGTGTATATACACATGTATATGAGTATACG TGTGTATATACACATGTATATGAGTATACGTGTGTATATACACATGTATA TGAGTATACGTGTGTATATACACATGTATATGAGTATACGTGTGTATATA CACATGTATATGAGTATACGTGTGTATATACACATGTATATGAGTATACG TGTGTATATACACATGTATATGAG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136740	T T	TTTATATT others(197): Show TTTATATTATATTTATATTATATATAAATATATATATTTATATTATATAT AAATATATATATTTATATTATATATAAATATATATATTTATATTATATAT AAATATATATATTTATATTATATATAAATATATATATTTATATATATATA AATATATATATTTATATTATATATAAATATATATATTTATATTATATATA AATTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	138	0.0072	204	c.432 others(223): Show c.432-69252_432-69251insTATATTATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATTATATATAAATATATATATTTATATTATATATAAA TATATATATTTATATATATATAAATATATATATTTATATTATATATAAAT ATATATATTTATATTATATATAAATTAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNOT3_chr19_54132762_54160681	54133833	C C	CTCTCTCC others(197): Show CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTGT CCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTC CACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	210	0.0048	204	c.-42 others(215): Show c.-4211_-4210insTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCAC CTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCC TCACTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTC CACCTCCCCTCACTCCACCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3928		chr19	TogoVar
CNTNAP2_chr7_146111801_148425998	146712385	C C	CTATATAG others(197): Show CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATCTTATGTATACTATATAGTATACATATCT TATGTATACTATATAGTATACATATCTTATGTATACTATATAGTATACAT ATCTTATGTATACTATATAGTATACATATCTTATGTATACTATATAGTAT ACATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0022 a0001c0005t0022	a0001c0005t0022g0032 a0001c0005t0022g0032	1	35	0.0286	204	c.98- others(221): Show c.98-61880_98-61879insGTATACATATCTTATGTATACTATATAG TATACATATCTTATGTATACTATATAGTATACATATCTTATGTATACTAT ATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATGTATA CTATATAGTATACATATCTTATGTATACTATATAGTATACATATCTTATG TATACTATATAGTATACATATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255702	G G	GCGGGCAG others(197): Show GCGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGCGGGCA GGCAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGCA GGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA20752.hp2 HG04204.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0068 a0001c0010 a0004c0068	a0001c0010t0001 a0004c0068t0001 a0001c0010t0001 a0004c0068t0001	a0001c0010t0001g0148 a0004c0068t0001g0134 a0001c0010t0001g0148 a0004c0068t0001g0134	2	340	0.0059	204	c.85- others(221): Show c.85-12969_85-12968insTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCT CCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTGCCTGCCCGCTCCCTTCCTGCCTGCC CCCTTCCCTTCCTGCCTGCCTGCCCG	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134685548	G G	GCATCCAT others(197): Show GCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCATCC ATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCATGC ATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCATCATCCAT CCATTGTCCATCATCCATCCATCCATCCATTCATCCATCCATCCATCCGT CCATC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02258.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0004 a0001c0011t0007 a0001c0007t0004 a0001c0011t0007	a0001c0007t0004g0028 a0001c0011t0007g0027 a0001c0007t0004g0028 a0001c0011t0007g0027	2	270	0.0074	204	c.110 others(221): Show c.110-5327_110-5326insATCCGTCCATCCATCCATCCATCCTCCA TCCATCCATCCATCCATCAACCATCCATCCATGCATCCATTCATCCATCC ACCATCCATCCACCATCCATCCACCATCATCCATCCATTGTCCATCATCC ATCCATCCATCCATTCATCCATCCATCCATCCGTCCATCCATCCATCCAT CCATCTATTCATCCATCCATCCATCC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A2_chr21_46093112_46134801	46134701	G G	GAGGGTGA others(197): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGA GGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0324 a0003c0004t0002g0324	1	273	0.0037	204	c.52 others(215): Show c.5210_*5211insAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAG GGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGG TGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4901		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134701	G G	GAGGGTGA others(197): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGA GGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0323 a0003c0010t0002g0323	1	266	0.0038	204	c.21 others(215): Show c.2149_*2150insAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGG TGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTC AGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAG GGTCAGGGTCAGGTTTAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGG TGAGGGTGAGGGTGAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1854		chr21	TogoVar
COPG2_chr7_130501238_130673748	130591134	G G	GGTGAGGG others(197): Show GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCT CTGCCTGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGCGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCTGTCT GGGAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	324	0.0031	204	c.737 others(223): Show c.737+19818_737+19819insTTCCCAGACAGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACGCCCCCACCTC CCTCCCGGACGGAGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCAC	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CPNE3_chr8_86509435_86566498	86520140	C C	CCACTTCC others(197): Show CCACTTCCTAAACAAGTTCCATATTCACTGTAATTAAATTAGGGTTATAG TACATTAATGGAAAAGACCTTAAGAATTACTTAAAGAAAGGGATTGACTC AACTCTTAGGTTTAACAGCTGAAGGCTGGGCGCAGTGGCTCACGCCTGTA ATCTCAGCATTTTGGGAGGCCAAGGTGGGCAGATTACAGGCGGATTACCT GAAGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(2): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0004 a0002c0005t0005 a0001c0002t0002 a0002c0005t0004 a0002c0005t0005	a0001c0002t0002g0289 a0002c0005t0004g0287 a0002c0005t0004g0288 others(2): Show a0001c0002t0002g0289 a0002c0005t0004g0287 a0002c0005t0004g0288 a0002c0005t0005g0290 a0002c0005t0005g0291	5	338	0.0148	204	c.-11 others(221): Show c.-11+4644_-11+4847dupCTTCCTAAACAAGTTCCATATTCACTGT AATTAAATTAGGGTTATAGTACATTAATGGAAAAGACCTTAAGAATTACT TAAAGAAAGGGATTGACTCAACTCTTAGGTTTAACAGCTGAAGGCTGGGC GCAGTGGCTCACGCCTGTAATCTCAGCATTTTGGGAGGCCAAGGTGGGCA GATTACAGGCGGATTACCTGAAGTCA	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(197): Show AGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATAC ACGGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0042 a0001c0005t0002g0042	1	335	0.0030	204	c.927 others(219): Show c.927+717_927+718insGCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCGTGTCAGCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTCA others(197): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTGTC ACCCG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0003 a0010c0016t0003	a0010c0016t0003g0114 a0010c0016t0003g0114	1	283	0.0035	204	c.928 others(219): Show c.928-601_928-600insCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA TGGCCCCCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(197): Show ATATATATATATATATATATATATTTCTATATATATATATATATATATAT TTCTATATATATATATATATATATATATTTCTATATATATATATATATTT CTATATATATATATATTTCTATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATATATTTCTATATATATATAT ATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	156	0.0064	204	c.56 others(215): Show c.5645_*5646insTATATATATATATATATATATATTTCTATATATA TATATATATATATATTTCTATATATATATATATATATATATATTTCTATA TATATATATATATTTCTATATATATATATATTTCTATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATATATT TCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(197): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATATATCTATATATATATATATATTT CTATATATATATATATTTCTATATATATATATTTCTATATATATATATTT CTATATATATATATTTCTATATATATATATATATTTCTATATATATATAT ATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	156	0.0064	204	c.56 others(215): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATATATCTATA TATATATATATATTTCTATATATATATATATTTCTATATATATATATTTC TATATATATATATTTCTATATATATATATTTCTATATATATATATATATT TCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CRKL_chr22_20912407_20958747	20955490	A A	ATATATAT others(197): Show ATATATATATATATATATATATTTCTATATATATATATATATATATATAT TTCTATATATATATATATATATATATTTCTATATATATATATATATTTCT ATATATATATATATTTCTATATATATATATTTCTATATATATATATTTCT ATATATATATATTTTTCTATATATATATATATATTTCTATATATATATAT ATTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	156	0.0064	204	c.56 others(215): Show c.5645_*5646insTATATATATATATATATATATTTCTATATATATA TATATATATATATATTTCTATATATATATATATATATATATTTCTATATA TATATATATATTTCTATATATATATATATTTCTATATATATATATTTCTA TATATATATATTTCTATATATATATATTTTTCTATATATATATATATATT TCTATATATATATATATTTC	CRKL	ENSG00000099942.13	transcript	ENST00000354336.8	protein_coding		1744		chr22	TogoVar
CSMD1_chr8_2930361_4999914	3448331	G G	GGGAGGGA others(197): Show GGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGA AGGGAGGGAGGGAGGGGGAGGAGGGAGGAGGAAGGGAAAGAAGGAAGGAA GAAAGGGAGGGAGGGAGAGAGGGAGGGAGGCAGGAGGGAGGGAGGGAGGG AGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA19030.hp2 HG02965.hp1 HG03195.hp1 NA19030.hp2	a0002 a0024 a0038 a0002 a0024 a0038	a0002c0054 a0024c0052 a0038c0104 a0002c0054 a0024c0052 a0038c0104	a0002c0054t0079 a0024c0052t0049 a0038c0104t0069 a0002c0054t0079 a0024c0052t0049 a0038c0104t0069	a0002c0054t0079g0096 a0024c0052t0049g0098 a0038c0104t0069g0058 a0002c0054t0079g0096 a0024c0052t0049g0098 a0038c0104t0069g0058	3	126	0.0238	204	c.156 others(225): Show c.1561+20380_1561+20381insTCCCTCCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCTCTCCCTCCCTCCCTTTCTTCCTTCCTTCTTTCCCTT CCTCCTCCCTCCTCCCCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCT CCCTTCTTCCTTCCTTCCTTCCTTCCCTCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(197): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18939.hp1 NA18999.hp1 others(1): Show HG01358.hp1 NA18939.hp1 NA18999.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0289 others(1): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0289 a0001c0001t0001g0290	4	342	0.0117	204	c.28- others(219): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CUX2_chr12_111029165_111355554	111326188	G G	GTTTTGTT others(197): Show GTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTG TGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGT TGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGG TTGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp1 HG02622.hp1 others(1): Show HG01099.hp1 HG02145.hp1 HG02622.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0025 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026	4	38	0.1053	204	c.292 others(223): Show c.2926+3611_2926+3612insTGTTTATAGTGTTGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAG TGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTAT AGTGTTGTGATGGGGAGGGGTTGGTTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CXorf51A_chrX_146809106_146819744	146812368	C C	CATATATG others(197): Show CATATATGTGTACATATATGTGTGTATATGTGTGTATATACATATATGTG TATATACATATATACACATATATATGTGTGTATATGTGTGTGTATATACA TATATGTGTATATACGTATATACACATATATGTGTGTATATATGTGTATA TATATACATATATACACATGTGTATATATGTGTATATATATACATATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	39	0.0256	204	c.18 others(215): Show c.1838_*1839insATGTGTATATATGTATATATATACACATATATAC ACATGTGTATATATGTATATATATACACATATATACACACATATATGTGT ATATACGTATATACACATATATGTATATACACACACATATACACACATAT ATATGTGTATATATGTATATACACATATATGTATATACACACATATACAC ACATATATGTACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1737		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812368	C C	CATATATG others(197): Show CATATATGTGTACATATATGTGTGTATATGTGTGTATATACATATATGTG TATATACATATATACACATATATATGTGTGTATATGTGTGTGTATATACA TATATGTGTATATACGTATATACACATATATGTGTGTATATATGTGTATA TATATACATATATACACATGTGTATATATGTGTATATATATACATATATA CACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	48	0.0208	204	c.20 others(215): Show c.2060_*2061insATATATGTGTACATATATGTGTGTATATGTGTGT ATATACATATATGTGTATATACATATATACACATATATATGTGTGTATAT GTGTGTGTATATACATATATGTGTATATACGTATATACACATATATGTGT GTATATATGTGTATATATATACATATATACACATGTGTATATATGTGTAT ATATATACATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1958		chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(197): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCC CTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02559.hp1 others(2): Show HG01884.hp2 HG02257.hp2 HG02559.hp1 HG02818.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0106	5	20	0.2500	204	c.165 others(219): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGG GGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGG GGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DBNDD1_chr16_89999871_90024456	90008138	G G	GCACACCT others(197): Show GCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACCCACACCTC CCAGGATGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTC CCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGGGC CTCAGCCCACCACGCACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCA CCACC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	250	0.0040	204	c.319 others(219): Show c.319+645_319+646insGGTGGTGGGCTGAGGCCCCTTGGGAAGTCC TGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTG TGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGGG GGTGAGGCCCCTTGGGACATCCTGGGAGGTGTGGGTGGTGGGCTGAGGCC CCTTGGGACGTCCTGGGAGGTGTG	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008479	T T	TTCCCAAG others(197): Show TTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGG GGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCC CACCATGCACACCTCTCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCA CACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCA GGACG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	358	0.0028	204	c.319 others(219): Show c.319+304_319+305insCGTCCTGGGAGGTGTGCGTGGTGGGCTGAG GCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGG GAAGTCCTGAGAGGTGTGCATGGTGGGCTGAGGCCCCTTGGGAAGTCCTG GGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGG GTGGTGGGCTGAGGCCCCTTGGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90008584	C C	CACACACC others(197): Show CACACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCT CCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACG TCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGG GCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCC CCCAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG00741.hp1 others(24): Show HG00323.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp2 HG02293.hp1 HG03704.hp2 HG03831.hp2 HG04228.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18980.hp2 NA18990.hp1 NA19002.hp2 NA19054.hp1 NA19057.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0001 a0001c0001t0002 a0001c0001t0016	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0083 others(19): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0002g0245 a0001c0001t0016g0118	27	407	0.0663	204	c.319 others(219): Show c.319+199_319+200insTTGGGGGGTGAGGCCCCTTGGGACGTCCTG GGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTG GGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGG CTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCC CTTGGGACGTCCTGGGAGGTGTGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(197): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATTTTTTTTTT TTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01257.hp1 others(6): Show HG00140.hp1 HG00738.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG03654.hp2 HG03688.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0025 a0001c0002t0035 a0001c0002t0008 a0001c0002t0025 a0001c0002t0035	a0001c0002t0008g0007 a0001c0002t0008g0049 a0001c0002t0008g0120 others(3): Show a0001c0002t0008g0007 a0001c0002t0008g0049 a0001c0002t0008g0120 a0001c0002t0025g0007 a0001c0002t0025g0049 a0001c0002t0035g0007	9	290	0.0310	204	c.-11 others(215): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCC_chr18_52335197_53540899	53428611	T T	TTTTATAT others(197): Show TTTTATATATAATTATATAATATATTTTTATATATAATGTATATTTTATA TATTATATATATTTTATATATAATGTATATTTTATATATTATATATATTT TATATATAATGTATATTTTATATATTATATATATTTTATATATAATGTAT ATTTTATATATTATATATATTTTATATATAATGTATATTTTATATATTAT ATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0013 a0001c0003t0008g0013	1	80	0.0125	204	c.316 others(223): Show c.3164-6530_3164-6529insATATATAATTATATAATATATTTTTA TATATAATGTATATTTTATATATTATATATATTTTATATATAATGTATAT TTTATATATTATATATATTTTATATATAATGTATATTTTATATATTATAT ATATTTTATATATAATGTATATTTTATATATTATATATATTTTATATATA ATGTATATTTTATATATTATATATATTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCLK2_chr4_150073445_150262438	150251087	A A	ACACCCCC others(197): Show ACACCCCCACACCCCCCCACACCCCCACACATCCCCCACCCCCACATCCC CCCACCCCCACCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACACCCCCCACACCCCCCACATCCCCCACACCCCCACACATCCCCCACA CCCCCACACATCCCCCCACACCCCCCACATCCCCCACACCCCCCACATCC CCCAC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	71	0.0141	204	c.207 others(223): Show c.2073+1403_2073+1404insCACCCCCACACCCCCCCACACCCCCA CACATCCCCCACCCCCACATCCCCCCACCCCCACCCCCACACCCCCCACA TCCCCCACACCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCC CACACCCCCACACATCCCCCACACCCCCACACATCCCCCCACACCCCCCA CATCCCCCACACCCCCCACATCCCCCAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DEPDC1B_chr5_60591912_60705166	60668158	A A	ATTTTATA others(197): Show ATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGG ATATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAAT GGATATTTTATATATATATAAAATGGATATTTTATATATATATAAAATGG ATATTTTATATATATATAAAATGGATATTTTATATATATATATAAAATGG ATATT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	226	0.0044	204	c.314 others(223): Show c.314+18803_314+18804insAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAAA TATCCATTTTATATATATATAAAATATCCATTTTATATATATATATAAAA TATCCATTTTATATATATATATAAAATATCCATTTTATATATATATATAA AATATCCATTTTATATATATATATAAAA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DGKD_chr2_233349494_233477098	233463375	A A	ACATCTCC others(197): Show ACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCA CGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0233 a0001c0002t0003g0233	1	326	0.0031	204	c.318 others(221): Show c.3186+656_3186+657insGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATGTCCTCACTGCACGCATGTCCTCACTGCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463507	G G	GCACGCAT others(197): Show GCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA20129.hp2 HG01934.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0111 a0001c0002t0004g0102 a0001c0002t0003g0111 a0001c0002t0004g0102	2	255	0.0078	204	c.318 others(221): Show c.3187-650_3187-649insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463640	A A	ACTCCACA others(197): Show ACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCC TCACTCCACACATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCGCTCCACGCATCTCCTCGCTCCACGCATCTCCTCGCTCCACGCATCT CCTCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0139 a0001c0004t0014g0139	1	330	0.0030	204	c.318 others(221): Show c.3187-518_3187-517insACATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACACATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACACATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCCTCGCTCCACGCATCTCCTCGCTCCACGCATCTCC TCGCTCCACGCATCTCCTCGCTCCAC	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233463643	C C	CCACGCAT others(197): Show CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0155 a0001c0001t0042g0155	1	332	0.0030	204	c.318 others(221): Show c.3187-514_3187-513insCTCCTCACTCCACGCATCTCCTCACTCC ACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTC CACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACT CCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCAC TCCACGCATCTCCTCACTGCACGCAT	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875290	G G	GCACCCCC others(197): Show GCACCCCCACCCGCACCGGCACCCCCACCCGCACCCCCACCCGCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCAC CCCCACCCGCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC GCACCCCCACCCTCACCCCCACCCTCACCCCCACCCGCACCCGCACCCTC ACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0024 a0001c0009t0001g0024	1	252	0.0040	204	c.39 others(215): Show c.3942_*3943insGGGGTGAGGGTGCGGGTGCGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGGGGG TGCCGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2452		chr20	TogoVar
DIP2C_chr10_269201_694668	322128	G G	AGCGAGAG others(197): Show AGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCA GGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	67	0.0149	204	c.392 others(223): Show c.3924+4878_3924+4879insGGAGCCCCGCACCCCCGACTGACTGT TCTAACAACACTGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTT CTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCGCTGGAGCCCTGCACCCCCGCACCCCCGACTG ACTGTTCTAACAGCGCCGGTCTCTCGCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608492	A A	ACACACAC others(197): Show ACACACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACAT CCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACAC ACACACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCC CCCACACACACACATCCCCCCCACACACACACATCCCCCCCCCACACACA CACAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	66	0.0152	204	c.85+ others(221): Show c.85+81001_85+81002insATGTGTGTGTGTGGGGGGGGGATGTGTG TGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGG ATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGT GGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATG TGTGTGTGTGGGGGGGGATGTGTGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGGGT others(197): Show GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTC TGTCCTGGGGGGGGGTCTGGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTC TGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0020 a0020	a0020c0081 a0020c0081	a0020c0081t0002 a0020c0081t0002	a0020c0081t0002g0155 a0020c0081t0002g0155	1	136	0.0074	204	c.101 others(223): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGG GTCTGTCCTGGGGGGGGGTCTGGTCCTGGGGGGGGTCTGTCCTGGGGGGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912204	G G	GGGGGGTC others(197): Show GGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTACTGGGGGGGGGTCT GTCCT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0002 a0022c0018t0002	a0022c0018t0002g0034 a0022c0018t0002g0034	1	152	0.0066	204	c.101 others(223): Show c.10135-892_10135-891insGGGTCTGTCCTGGGTGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTACTGGGGGGGGGTCTGTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK10_chr2_224760090_225047468	225018598	A A	ATATATAA others(197): Show ATATATAATATATATGTAATATTACATATATATAATATATATGTAATATT ATATATATAATATATATGTAATATTACATATATATATAATATATATGTAA TATTATATATATAATATATATGTAATATTATATATATATAATATATATGT AATATTATATATATAATATATATGTAATATTATATATATAATATATATGT AATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02965.hp1 others(2): Show HG01884.hp1 HG02486.hp2 HG02965.hp1 HG03540.hp2 NA18906.hp2	a0002 a0005 a0014 others(1): Show a0002 a0005 a0014 a0016	a0002c0002 a0005c0014 a0014c0024 others(1): Show a0002c0002 a0005c0014 a0014c0024 a0016c0028	a0002c0002t0001 a0005c0014t0010 a0014c0024t0007 others(1): Show a0002c0002t0001 a0005c0014t0010 a0014c0024t0007 a0016c0028t0001	a0002c0002t0001g0070 a0005c0014t0010g0066 a0005c0014t0010g0072 others(2): Show a0002c0002t0001g0070 a0005c0014t0010g0066 a0005c0014t0010g0072 a0014c0024t0007g0071 a0016c0028t0001g0069	5	168	0.0298	204	c.123 others(223): Show c.123+23653_123+23654insATATTACATATATATTATATATATAA TATTACATATATATTATATATATAATATTACATATATATTATATATATAT AATATTACATATATATTATATATATAATATTACATATATATTATATATAT ATGTAATATTACATATATATTATATATATAATATTACATATATATTATAT ATATGTAATATTACATATATATTATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar

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