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
BCL11A_chr2_60452194_60558654	60467461	G G	GGTGATGG others(618): Show GGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGGTGG TGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGGTG GTGGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGT GGTAGTGATGGTGGTGGTAATGGTGGTGGTGGAGATGGTGGTGTTGATGG TGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGCTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGT AGTGATGGTGGTGGTAATGGTGGTGGTGGTGGTGGTGGTAGTGATGGTGG TGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTG GTAATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGCTGGT GGTCATGGTACTTTGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTAGTGATAATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTACTGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	141	0.0071	625	c.487 others(642): Show c.487+1270_487+1271insTACCACCACCACCACCATCACCACCACC ACCATTACCACCACCATCACTACCACCACCACCATCACCACCAGTACCAT CACCACCACCACCACCACCACCACCATTATCACTACCACCACCACCACCA CCACCACCATCACCACCACCATCACCATCACCACAAAGTACCATGACCAC CAGCACCATCACTACCACCACCACCACCATCACCACCACCACCATTACCA CCACCATCACTACCACCACCACCATCACCACCAGTACCATCACCACCACC ACCATCACTACCACCACCACCACCACCACCATTACCACCACCATCACTAC CACCACCACCATCACCACCAGTACCATCACCACCAGTAGCATCACCACCA CCACCACCATCACCATCACCACCAGTACCATCACCACCAGTACCATCACC ATCAACACCACCATCTCCACCACCACCATTACCACCACCATCACTACCAC CACCACCATCACCACCAGTACCATCACCACCAGTACCATCACCACCACCA CCACCATCACCATCACCACCAGTACCATCACCATCATCACCACCATCACC ACCACCACCATTACCACCACCATCACTACCACCACCACCACCATCAC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BICC1_chr10_58507872_58836435	58621903	T T	TTAGAATA others(618): Show TTAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	102	0.0098	625	c.237 others(642): Show c.237+1069_237+1070insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(618): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATATAATTATATATATTTATATATATATAATTATATATAT ATATAAAATTATATATATAATTATATATATTATATATAATTATATATATA ATTTTATATATATAATTATATATATTTATATATATATATATAATTATATA TATATATAAAATTATATATATAATTATATATATATTATATATAATTATAT ATATATATTATATATAATTTTATATATATAATTATATATATAATTTTATA TATATAATTTTATATATATAATTTTATATATATAATTTTATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	94	0.0106	625	c.907 others(640): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATAAAATTATATATATAAAATTATATATATAAAATTATATATATA AAATTATATATATAATTATATATATAAAATTATATATAATATATATATAT AATTATATATAATATATATATAATTATATATATAATTTTATATATATATA TAATTATATATATATATATAAATATATATAATTATATATATAAAATTATA TATATAATTATATATAATATATATAATTATATATATAATTTTATATATAT ATATAATTATATATATATAAATATATATAATTATATATATATAAAATTAT ATATATAATTATATATATATAAAATTATATATATAATTATATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(618): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATAATTATATATATAATTTTATATATATATAATTA TATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	94	0.0106	625	c.907 others(640): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(618): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATTTATATAT ATATAATTATATATATATATAAAATTATATATATAATTATATATATTATA TATAATTATATATATAATTTTATATATATAATTATATATATTTATATATA TATATATAATTATATATATATATAAAATTATATATATAATTATATATATA TTATATATAATTATATATATATATTATATATAATTTTATATATATAATTA TATATATAATTTTATATATATAATTTTATATATATAATTTTATATATATA ATTTTATATATATAATTATATATATAATTTTATATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATATAAT TATATATATAATTTTATATATATATAATTATATATATAATTTTATATATA TATAATTATATATATAATTATATATATAATTTTATATATATAATTATATA TATAATTTTATATATATATAATTATATATATAATTTTATATATATAATTA TATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01975.hp1 HG02071.hp2 others(8): Show HG01943.hp2 HG01975.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp1 HG04228.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0019 a0002c0002 others(2): Show a0001c0001 a0001c0019 a0002c0002 a0002c0004 a0005c0012	a0001c0001t0001 a0001c0001t0007 a0001c0019t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0019t0001 a0002c0002t0001 a0002c0004t0001 a0005c0012t0002	a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0001g0204 others(8): Show a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0247 a0001c0001t0007g0072 a0001c0019t0001g0203 a0002c0002t0001g0282 a0002c0004t0001g0066 a0005c0012t0002g0254	11	104	0.1058	625	c.907 others(640): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(618): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATAATTATATATATAATTTT ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATATAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATATAAT TATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTA TATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0199	1	249	0.0040	625	c.907 others(640): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATATATAATTATATATAAAATTATATATATAA TTATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAA TTATATATATAATTATATATATAAAATTATATATATAATTATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(618): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATAATTATATATATTATATAATT ATATATATAATTTTATATATATATAATTATATATACAATTTTATAATATA TATAATTATATATACAATTATATATATATATAATTATATATATATAATTG TATATATAATTTTATATATATAATTATATATAATTTTATATATATATAAT TATATATATAATTATATATATATAATTATATATATTTATATATATATAAT TATATATATAATTTTATATATATAATTTTATATAATTTTATATATAATTA TATATATAATTTTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02683.hp2 HG00140.hp1 HG02683.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0283 a0003c0003t0001g0148 a0003c0003t0001g0283	2	250	0.0080	625	c.907 others(640): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATAAATATATATAATTATATATATATAATTATATATATAATTA TATATATATAAAATTATATATAATTATATATATAAAATTATATATACAAT TATATATATATAATTATATATATATATAATTGTATATATAATTATATATA TTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAATT ATATAATATATATAATTATATATATAAAATTATATAATATATATAATTAT ATATATATAAAATTATATATATAATTATATATAAAATTATATATATAATT ATATATAAAATTATATATATAATTATATATAAAATTATATATATAATTAT ATATAAAATTATATATATAATTATATATAAAATTATATATATATAAAATT ATATATATAATTATATATATATAAAATTATATATATAATTATATATATAA AATTATATATATAATTATATATATATAAAATTATATATATAATTATATAT ATATAATTATATATATATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(618): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGGTGT GTGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGG GCTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGGTGGGGTGGAGTG GGGGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTG CAGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGG GTGGGGGAAGGGTGTGGGTGGGGGAGGGGGTGGGGTGGGGTGGGAGGGGG TGGGGTGGAGTGGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGG TGGGGGAAGGGTGCAGGTGGGGTGGGGGAAGGGGTGTGGGTGGGGTGGGG GAGGGGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGG GTGGGGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	4	0.2500	625	c.712 others(642): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCCTTCCCCCACCCCACCTGCACCCTTCCCCCACC CCACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCCACTCCACCCCACC CCCTCCCACCCCACCCCACCCCCTCCCCCACCCACACCCTTCCCCCACCC CACCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCA CCCTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCA CTCCACCCCACCCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCC CACCCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACAC ACCCCTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCC ACCCCACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACC CCAACCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCA CCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC127_chr5_191868_223153	210939	C C	CGACATCG others(618): Show CGACATCGCACACTGCAGCCACGATGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTCAACATCACAC ACCGCAGCCACGATGAGACAGCACCACACACCCATCACGATGGGGCAGAC GGGACAGCAGTGTGAGCACGCTGATGCTCGACATCGCACACTGCAGCCAT GACGAGACAGCACCACACACCCATCATGATGGGGCAGACTGGACAGCAGT GTGAGCACACTGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGC ACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACGCT GATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCC ATCAGGATGGGGCAGACGGGACAGCAATGTGAGCACGCTGAGATGCTCGA CATTGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATG GGGCAGACGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCACACT GCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGACAGG ACAGCAATGTGAGCACGCTGATGCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG02886.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0049 a0001c0001t0048 a0001c0001t0049	a0001c0001t0048g0104 a0001c0001t0049g0105 a0001c0001t0048g0104 a0001c0001t0049g0105	2	312	0.0064	625	c.122 others(642): Show c.122-4982_122-4981insAAGCATCAGCGTGCTCACATTGCTGTCC TGTCTGCCCCATCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAG TGTGCGATGTCGAGCATCAGTGTGCTCACACTGCTGTCCCGTCTGCCCCA TCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCAATGTC GAGCATCTCAGCGTGCTCACATTGCTGTCCCGTCTGCCCCATCCTGATGG GTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCGATGTCGAGCATCAG CGTGCTCACACTGCTGTCCCGTCTGCCCCATCCTGATGGGTGTGTGGTGC TGTCTCGTCGTGGCTGCAGTGTGCGATGTCGAGCATCAGTGTGCTCACAC TGCTGTCCAGTCTGCCCCATCATGATGGGTGTGTGGTGCTGTCTCGTCAT GGCTGCAGTGTGCGATGTCGAGCATCAGCGTGCTCACACTGCTGTCCCGT CTGCCCCATCGTGATGGGTGTGTGGTGCTGTCTCATCGTGGCTGCGGTGT GTGATGTTGAGCATCAGCGTGCTCACACTGCTGTCCCGTCTGCCCCATCC TGATGGGTGTGTGGTGCTGTCTCATCGTGGCTGCAGTGTGCGATGTC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(618): Show GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCTGCCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACACTG CAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	50	0.0200	625	c.-28 others(636): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00639.hp1 others(41): Show HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01255.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03139.hp2 HG03516.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA18522.hp2 NA18943.hp2 NA18961.hp1 NA18962.hp1 NA19000.hp2 NA19002.hp1 NA19064.hp1 NA19070.hp2 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0001c0027 a0024c0030 a0001c0001 a0001c0027 a0024c0030	a0001c0001t0001 a0001c0027t0001 a0024c0030t0001 a0001c0001t0001 a0001c0027t0001 a0024c0030t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 others(41): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0027t0001g0066 a0024c0030t0001g0003	44	99	0.4444	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02015.hp2 HG02040.hp2 others(19): Show HG00609.hp2 HG02015.hp2 HG02040.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp2 NA18747.hp2 NA18941.hp2 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19087.hp1 NA19090.hp2	a0001 a0011 a0023 a0001 a0011 a0023	a0001c0001 a0011c0016 a0023c0031 a0001c0001 a0011c0016 a0023c0031	a0001c0001t0001 a0001c0001t0004 a0011c0016t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0011c0016t0001 a0023c0031t0001	a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0122 others(19): Show a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0250 a0001c0001t0004g0143 a0011c0016t0001g0105 a0011c0016t0001g0183 a0023c0031t0001g0108	22	77	0.2857	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCGCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02258.hp1 HG02647.hp2 others(4): Show HG01169.hp2 HG02258.hp1 HG02647.hp2 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA21309.hp1	a0005 a0025 a0005 a0025	a0005c0008 a0025c0020 a0005c0008 a0025c0020	a0005c0008t0001 a0025c0020t0002 a0005c0008t0001 a0025c0020t0002	a0005c0008t0001g0069 a0005c0008t0001g0070 a0005c0008t0001g0071 others(4): Show a0005c0008t0001g0069 a0005c0008t0001g0070 a0005c0008t0001g0071 a0005c0008t0001g0072 a0005c0008t0001g0074 a0005c0008t0001g0130 a0025c0020t0002g0068	7	62	0.1129	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGCGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	56	0.0179	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCTCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	56	0.0179	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGAGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(618): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCTTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02015.hp1 HG02683.hp2 others(2): Show HG00558.hp1 HG02015.hp1 HG02683.hp2 NA18959.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187	5	60	0.0833	625	c.-29 others(636): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAA GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATACCCC others(618): Show TATACCCCAACATACACACACACACACACACACACACACTGCAATACACA CACCACACATACACCCCAACACACACACACACACATACAGACACCAATAC ATACACCATGCATATACCCCAACACACACACACCCCCAATACACTCACAA CACATACACCCCAACACACACACACCCCCAATACACACACCACACATATA CCCCAACACACACACACACACACCCAATACACACACCACACATATACCCC AACACACACACACCAATACATGCACCAACACATATACCCCAACATACACA CACACCCCCAACACACACCAAAGCATATACGCCAACACACACACACATAC ACAGCAATGCATTACCCCAACATACACACACAGACACACACACAATACAC ACACCAATACACACCAATGCATATACCCCAACATACACACATATAGCAAC ATACACCCTAACACACATACATACACATACACACACCAAATAGACACACA CCCCAACACACACAACCAACACCCCCACACACCCAACACACACACATACA CGTACACACACATCAACACATAACTATGCACCCCAACACACACACACACA CACAACATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA18522.hp2 HG02922.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0177 a0001c0001t0004g0001 a0001c0001t0001g0177 a0001c0001t0004g0001	2	40	0.0500	625	c.449 others(642): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTA TATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTT GTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGT ATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTG TGTATTGCAGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	8	0.1250	625	c.217 others(640): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0049 a0049	a0049c0061 a0049c0061	a0049c0061t0001 a0049c0061t0001	a0049c0061t0001g0142 a0049c0061t0001g0142	1	8	0.1250	625	c.217 others(640): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924924	A A	ACCCAGCC others(618): Show ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCAC ACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCA CACTGACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACT GACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0290 a0002c0002t0002g0290	1	328	0.0030	625	c.489 others(640): Show c.489-797_489-796insAGCCCCCACACTGACCCGGCCCCCCACACT AACCCAGTCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCACAC TAACCCAGCCCCCCACACTACCCCGGCCCCCACACTGACCCAGTCCCCAC ACTGACCCAGCCCCCACACTGACCCAGTCCCCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCC CCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACC CAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAA CCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTATCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35957930	T T	TCACCACC others(618): Show TCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACC ATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACCATCAC CACCATCACCACTATAACCACCACTACCACCACCACCATTATAACCATCA CCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTACA ACCATTACCACCATCACTGCTATAACCACCACCACCACCACCACCACTAT AACCACCATCATCATCACCACCACTACCACTACTATAACCATCACCACCA TCACTGCTATAACCACCACCACCACCACTATAACCACCACCACCACCACC ACCACCACTATAATCATTACCACTATAACCACCACTACCACCACCACCAC CATTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCA CTACCACTACTATAACCATCACCACCATCACTACTATAACCACCACTACC ACCACCACCACTATGATAACCATCACCAACACCACTATAACCACCAATGC CAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAG GACCAACCAGGACCAACCAGGACCAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0128 a0001c0001t0018g0128	1	228	0.0044	625	c.724 others(644): Show c.724-10474_724-10473insTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTGGTGGT GGTAGTGGTGGTTATAGTAGTGATGGTGGTGATGGTTATAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATG GTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGT GGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGA TGGTGGTGATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTT ATAGTGGTGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGT TGTAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGG TGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTG GTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGAT GGTTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251256	C C	CCCCACAC others(618): Show CCCCACACCCCCCACACCCCTCACATCCCCCACACCCCCCAAATCCCCCA CACCCCCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCC CCCAACACCCCCACACACCCCCCACACACCCCCCACACCACACATCCCCC ACACCCCCCACACCACACACCCCCCACACCCCCCAACACCCCCACACCCC CACACCCCCACACACCACACATCCCCCACACCCCCCACACCCCCACACCC CCACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACAC ACCCCCCACACCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCA CATCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACACTCCCC ACACCCCCCACATCCCCCACATCCCCCAAATCCCCCACACCCCCCCACAC CCCCCACATCCCCACACACCACAAATCCTCCACACCCCCCAACACCCCCA CACACCCCCCACACCACACATCCCTCACACCCCCAACACCCCCACACCTC CCACACCCCCCAAATCCCCCACACCCCCCACATCCCCCATACCCCTCACA CCACACATTCCCTCACACCCCTCACA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	108	0.0093	625	c.207 others(644): Show c.2073+1574_2073+1575insCACACCCCCCACACCCCTCACATCCC CCACACCCCCCAAATCCCCCACACCCCCCCACACCCCCCACATCCCCACA CACCACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACAC CCCCCACACCACACATCCCCCACACCCCCCACACCACACACCCCCCACAC CCCCCAACACCCCCACACCCCCACACCCCCACACACCACACATCCCCCAC ACCCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCAAATCCCCCACACCCCCCACATCTCCCCACACCCCCCACATCCCCACA CCCCCATCCCCCACACTCCCCACACCCCCCACATCCCCCACATCCCCCAA ATCCCCCACACCCCCCCACACCCCCCACATCCCCACACACCACAAATCCT CCACACCCCCCAACACCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCAACACCCCCACACCTCCCACACCCCCCAAATCCCCCACACCCCCC ACATCCCCCATACCCCTCACACCACACATTCCCTCACACCCCTCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(618): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCG CACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCA CCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACC CGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCC CACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCA CCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACC CCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	86	0.0116	625	c.39 others(636): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGG GTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(618): Show GGAGGTGAGGGGCAGGGGAGGGGAGGGGAGGGGCAGGGGAGGGGAGGGGC AAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGA TAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGC AGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGG TGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGC AGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGG CAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAG GTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAG GCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0080 a0001c0015t0001g0080	1	65	0.0154	625	c.62- others(642): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGGGAGGGGCAGGGG AGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGG GGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATG AGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGG GACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTG AGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGG GATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGT GAGATGAGGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAG GGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCA GGGGAGGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(618): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGG TGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGC AGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACAGGGGAGG TGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGC AGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGG TGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAG GTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGG CAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAG GTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAG GCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGG CAGGGGAGGTGAGGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0148 a0001c0001t0046g0148	1	65	0.0154	625	c.62- others(642): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGG GGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTG AGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGTCAGGGG AGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGAGG GGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGGGA GGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGT GAGATGAGGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAG GGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCA GGGGAGGTGAGGCAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGT GAGGTGAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(618): Show GTATATACATATAAATATATATGTATGTATATTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATACATATAAATATATATTTATATACATA TAAATATATAATTATATACATATAAATATATAATTATATACATATAAATA TATATAATTATATACATATAAATATATATTTATATACATATAAATTTATA TACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0003 a0003c0022t0003	a0003c0022t0003g0258 a0003c0022t0003g0258	1	28	0.0357	625	c.49 others(636): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATATACAAATATATATATATTTATA TATATATAAATATATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATTTA TATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAATATACATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	625	c.31 others(636): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	625	c.31 others(636): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(618): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	8	0.1250	625	c.31 others(636): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(618): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCATAATCACC ATCACCACCACCATCACCATGATCACCATCACCACCACCACCATAATCAC CATCACCACCACCACCATAATCACCACCACCACCACCATCATCATCATCA CCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCATCA CCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACCACC ACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCACCAC CACCATCATCATCACCACCACCACCATCACCACCACCACCACCATCATCA TCACCACCACCACCACCATCACCACCACCACCACCATCATCATCACCACC ATCATCATCACCACCACCACCATCACCACCACCACCACCATGACCACCAC CACCACCCTCATCACCACCACCACCACCATCACCATTACCACTACCACCG CCACCATCATCACCACCAGCACCACCAACACCATCATCACCACCACCACC ATCACCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	3	0.3333	625	c.116 others(644): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ATAATCACCATCACCACCACCATCACCATGATCACCATCACCACCACCAC CATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCATCA TCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCACAA TCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATCACC ATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCACCAT CACCACCACCACCATCATCATCACCACCACCACCATCACCACCACCACCA CCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATCATC ATCACCACCATCATCATCACCACCACCACCATCACCACCACCACCACCAT GACCACCACCACCACCCTCATCACCACCACCACCACCATCACCATTACCA CTACCACCGCCACCATCATCACCACCAGCACCACCAACACCATCATCACC ACCACCACCATCACCACCACCATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B14_chr19_48808018_48841491	48834567	C C	CCTGGACT others(618): Show CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGG GAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0347 a0002c0002t0001g0347	1	368	0.0027	625	c.128 others(640): Show c.128-210_128-209insACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGAC CCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGG CTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTC CTCCCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(618): Show ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATATATAATATATATTATATTATATATAATATATTTTATATAATATATA ATATATATTATATTATATATAATATATTTTATATAATATATAATATATAT TATATTATATATAATATATTTTATATAATATATAATATATATTATATTAT ATATAATATATTTTATATAATATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATATTATATAATATA TAATATATATTATATTATATATATTATATATAAAATATAATATATATTAT ATTATATATATTATATATAAAATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0286 a0001c0001t0002g0286	1	174	0.0057	625	c.661 others(642): Show c.661+7230_661+7231insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATTTTATATATAATATATATAATAT AATATATATTATATTTTATATATAATATATATAATATAATATATATTATA TATTATATAATATATATTATATATAATATAATATATATTATATATTATAT AAAATATATTATATATAATATAATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATATTATATAAAATATATTATATAT AATATAATATATATTATATATTATATAAAATATATTATATATAATATAAT ATATATTATATATTATATAAAATATATTATATATAATATAATATATATTA TATATTATATAAAATATATTATATATAATATAATATATATTATATATTAT ATAAAATATATTATATATAATATAATATATATTATATATTATATAAAATA TATTATATATAATATAATATATATTATATATTATATAAAATATATTATAT ATAATATAATATATATTATATATTATATAAAATATATTATATATAATATA ATATATATTATATATTATATAAAATATATTATATATAATATAATATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(618): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATGT GGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	204	0.0049	625	c.-36 others(636): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATAT GCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(618): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGGAACCAATACA TACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATGT GGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	204	0.0049	625	c.-36 others(636): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATAC ATGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATATAT GCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(618): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGG AGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGA AGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGA AAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGG AGAAAGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0013	1	5	0.2000	625	c.-46 others(636): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTC CCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCC TCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCC TCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCT CCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTC CCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCT CTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCT TTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LMF1_chr16_848634_975984	894220	T T	TATCCGCC others(618): Show TATCCGCCCACCCGTCCCCCTGTCCACCGGACCGTCCGCCCACCCGTCCC CATGTCCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGTCCACCG GACCATTCGCCCACCCATCCCCCTGTCCACCTGGCCATCCGCCCACCTGT CTCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTG TCCGCCCACCTGTCCCCCTGTCCCCTGTCCACCGGACTGTCTGCCCACCC GTCCCCCTGTCCACCTGGCCATCCGCCCACCCATCCCCTGTCCACCGGAC CGTCCACCCACCCGTCCCCCTGTCCAGCAGAACGTCCACCCACCCGTCCC CCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCCCCTGTCCACCG GACCGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCCGCCCACCCAT CCCCTGTCCACTGGACCGTCCACCCACCCGTCCCCCTGTCCAGCGGACCG TCCACCCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCC TGTCCACTGGACCGTCCGCCCACCTGTCCCCCTGTCCACCTGGCAGTGCG CCCACCCATCCCCTGTCCACCGGACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01258.hp1 HG00741.hp2 HG01069.hp2 HG01258.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0009 a0001c0001 a0001c0010 a0003c0009	a0001c0001t0001 a0001c0010t0001 a0003c0009t0001 a0001c0001t0001 a0001c0010t0001 a0003c0009t0001	a0001c0001t0001g0177 a0001c0010t0001g0272 a0003c0009t0001g0006 a0001c0001t0001g0177 a0001c0010t0001g0272 a0003c0009t0001g0006	3	140	0.0214	625	c.664 others(642): Show c.664-1149_664-1148insGGTCCGGTGGACAGGGGATGGGTGGGCG CACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGGACAGG GGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACG GTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAGGGGAT GGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACGGTCCG GTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGACAGGGG GACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGGACGGT CCGGTGGACAGGGGATGGGTGGGCGGATGGCCAGGTGGACAGGGGGACGG GTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACA GTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAGGAGAC AGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATGGTCCG GTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGACATGGG GACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGGAT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	894220	T T	TATCCGCC others(618): Show TATCCGCCCACCCGTCCCCCTGTCCACCGGACCGTCCGCCCACCCGTCCC CATGTCCATCAGACCGTCCGTCCACCTGTCCCCCTGTCCCCTGTCCACCG GACCATTCGCCCACCCATCCCCCTGTCCACCTGGCCATCCGCCCACCTGT CTCCTGTCCACCGGACCGTCCACCCACCCGTCCCCCTGTCCACTGGACTG TCCGCCCACCTGTCCCCCTGTCCCCTGTCCACCGGACTGTCTGCCCACCC GTCCCCCTGTCCACCTGGCCGTCCGCCCACCCATCCCCTGTCCACCGGAC CGTCCACCCACCCGTCCCCCTGTCCAGCAGAACGTCCACCCACCCGTCCC CCTGTCCACTGGACTGTCCGCCCACCTGTCCCCCTGTCCCCTGTCCACCG GACCGTCTGCCCACCCGTCCCCCTGTCCACCTGGCCATCCGCCCACCCAT CCCCTGTCCACTGGACCGTCCACCCACCCGTCCCCCTGTCCAGCGGACCG TCCACCCACCCGTCCCCCTGTCCAGCGGACCGTCCACCCACCCGTCCCCC TGTCCACTGGACCGTCCGCCCACCTGTCCCCCTGTCCACCTGGCAGTGCG CCCACCCATCCCCTGTCCACCGGACC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	139	0.0144	625	c.664 others(642): Show c.664-1149_664-1148insGGTCCGGTGGACAGGGGATGGGTGGGCG CACTGCCAGGTGGACAGGGGGACAGGTGGGCGGACGGTCCAGTGGACAGG GGGACGGGTGGGTGGACGGTCCGCTGGACAGGGGGACGGGTGGGTGGACG GTCCGCTGGACAGGGGGACGGGTGGGTGGACGGTCCAGTGGACAGGGGAT GGGTGGGCGGATGGCCAGGTGGACAGGGGGACGGGTGGGCAGACGGTCCG GTGGACAGGGGACAGGGGGACAGGTGGGCGGACAGTCCAGTGGACAGGGG GACGGGTGGGTGGACGTTCTGCTGGACAGGGGGACGGGTGGGTGGACGGT CCGGTGGACAGGGGATGGGTGGGCGGACGGCCAGGTGGACAGGGGGACGG GTGGGCAGACAGTCCGGTGGACAGGGGACAGGGGGACAGGTGGGCGGACA GTCCAGTGGACAGGGGGACGGGTGGGTGGACGGTCCGGTGGACAGGAGAC AGGTGGGCGGATGGCCAGGTGGACAGGGGGATGGGTGGGCGAATGGTCCG GTGGACAGGGGACAGGGGGACAGGTGGACGGACGGTCTGATGGACATGGG GACGGGTGGGCGGACGGTCCGGTGGACAGGGGGACGGGTGGGCGGAT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(618): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG06807.hp1 HG00280.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0139 a0001c0001t0001g0060 a0001c0001t0001g0139	2	25	0.0800	625	c.71- others(638): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(618): Show GTATTCTATAGAATATGTATTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	24	0.0417	625	c.71- others(638): Show c.71-932_71-931insTTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTACA TATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1929778	T T	TCCCCACT others(618): Show TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCTACTGACACATCCCACCA CCACGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACG TCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGC CACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCATCC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACAGCCACGTC CCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCAC TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0129 a0001c0001t0002g0130	2	249	0.0080	625	c.180 others(644): Show c.1807+6908_1807+6909insGACGGGGCGAGGGGACGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCA GTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCTGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAG TGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGTGG TGGTGGGATGTGTCAGTAGGGGACGGGGCGAGGGGACGTGGCAGTGGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(618): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAATATAATTATATAATATATAATTATATTCTATATAGAATA TAATTATATAATATATAATTATATTCTATATAATATAATTATATAATATA TAATTATATTCTATATAGAATATAATTATATAATATATAATTATATTCTA TATTATATAATTATAATATAATTATATAATATAATTATATTGTATATAAT TATATTAAATATATTATATAATATATAATTATATTAAATATTATATAATA TATAATTATATTATATATTATATAATATATAATTATATTATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATATTATATATT ATAATACATTTAATATAATTATATTATAGATTATAATCTATAATATAATT ATATTAATAGTATTATAATATATAATATATTATATATAATTATATTATAA CATATTATATATAATTATATTATAGATCATAATCTATAATATACTTATAT ATAATATGTTATAATATATAATTATATTCTATATATAATTATATATAATA TAATTATATTCTATATAGAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	625	c.-32 others(636): Show c.-3200_-3199insAATATATTCTATATAGAATATAATTATATTATAT ATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAGT ATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAATA TAATTATATATAATATATTATATATTATAATACTATTAATATAATTATAT TATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATATA ATATAATTATATATTATATAATATATAATATAATTATATATTATATAATA TATAATATAATTATATATTATATAATATATAATATAATTATATATTATAT AATATTTAATATAATTATATATTATATAATATATTTAATATAATTATATA CAATATAATTATATTATATAATTATATTATAATTATATAATATAGAATAT AATTATATATTATATAATTATATTCTATATAGAATATAATTATATATTAT ATAATTATATTATATAGAATATAATTATATATTATATAATTATATTCTAT ATAGAATATAATTATATATTATATAATTATATTATATAGAATATAATTAT ATATTATATAATTATATTCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MED16_chr19_862963_898187	871898	A A	AGGGGGGA others(618): Show AGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGGGCGG GGAGGGGCGGGGGGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGG GGGGAGCGGGGAGGGGCGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGG AGGGGCGGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGGG GGGGAGCGGGGAGGGGCGGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGG GGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGG GGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGGGGGCGGGGGGGGGGCGG GGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGGGCGGGGAGGGGCGG GGGGGGGCGGGGAGGGGGCGGGGGGGGGGGCGGGGAGGGGCGGGGGGGGC GGGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGGCGGGGGGGGGCGG GGGGGGGGCGGGGGGGGGCGGGGGGGAGCGGGGGGGGCGGGGGGGGAGCG GGGAGGGGCGGGGGGGGCGGGGAGGGGCGGGGGGGCGGGGGGAGCGGGGG GGAGCAGGGGGGGGGCGAGGGGGAGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	44	0.0227	625	c.209 others(640): Show c.2098+27_2098+28insGCTCCCCCTCGCCCCCCCCCTGCTCCCCCC CGCTCCCCCCGCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCT CCCCCCCCGCCCCCCCCGCTCCCCCCCGCCCCCCCCCGCCCCCCCCCCGC CCCCCCCCGCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGCCC CCCCCGCCCCTCCCCGCCCCCCCCCCCGCCCCCTCCCCGCCCCCCCCCGC CCCTCCCCGCCCCCCCCCCGCCCCTCCCCGCCCCCCCCGCCCCTCCCCGC CCCCCCCCCGCCCCCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGC CCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGC TCCCCCCCGCCCCTCCCCGCTCCCCCCCCGCCCCTCCCCGCTCCCCCCCG CCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCCGCCCCTCCCC GCTCCCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCGC CCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCCCCGCCCCTCCCCGC CCCCCCCGCCCCTCCCCGCTCCCCCCGCCCCTCCCCGCTCCCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MYO7A_chr11_77123246_77220241	77192891	A A	AGTGATGG others(618): Show AGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGTGG AGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTG GAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGT GTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGG TGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTG TTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGAT GCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGG TAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTG ATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGCGATGGTGTT GGTGATGGTGGAGGTGGTGATGGTGTTGTTGATGGTGGAGGTAGTGATGG TGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTT GTTTGTGATGGTGGAGGTAGTGATGCTGTTTGTGATGGTGGAGGTAGTGA TGGTGTTGTTGGTGATGGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03516.hp2 HG06807.hp2 HG02647.hp2 HG03516.hp2 HG06807.hp2	a0005 a0019 a0031 a0005 a0019 a0031	a0005c0040 a0019c0064 a0031c0043 a0005c0040 a0019c0064 a0031c0043	a0005c0040t0004 a0019c0064t0004 a0031c0043t0004 a0005c0040t0004 a0019c0064t0004 a0031c0043t0004	a0005c0040t0004g0330 a0019c0064t0004g0245 a0031c0043t0004g0331 a0005c0040t0004g0330 a0019c0064t0004g0245 a0031c0043t0004g0331	3	343	0.0087	625	c.415 others(642): Show c.4152+638_4152+639insTAGTGATGGTGTTGGTGTTGGTGGAGGT AGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGG TAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGTGTTG GTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGAT GGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGT TGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTG TTGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGT GATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGG TGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGGTG ATGGTGGAGGTGGTGATGGTGTTGTTGATGGTGGAGGTAGTGATGGTGTT GGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTT GTGATGGTGGAGGTAGTGATGCTGTTTGTGATGGTGGAGGTAGTGATGGT GTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO7A_chr11_77123246_77220241	77192891	A A	AGTGATGG others(618): Show AGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGTGG AGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTG GAGGTGGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGT GTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGG TGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTG TTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGAT GCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGG TAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTG ATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGCGATGGTGTT GGTGATGGTGGAGGTGGTGATGGTGTTGTTGATGGTGGAGGTAGTGATGG TGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTT GTTTGTGATGGTGGAGGTAGTGATGCTGTTTGTGATGGTGGAGGTAGTGA TGGTGTTGTTGGTGATGGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02486.hp2 others(7): Show HG00639.hp1 HG01884.hp1 HG02486.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG03195.hp2 NA19043.hp1 NA20300.hp2	a0003 a0005 a0008 others(4): Show a0003 a0005 a0008 a0016 a0034 a0036 a0041	a0003c0001 a0005c0008 a0005c0052 others(5): Show a0003c0001 a0005c0008 a0005c0052 a0008c0098 a0016c0027 a0034c0044 a0036c0085 a0041c0084	a0003c0001t0001 a0005c0008t0001 a0005c0052t0001 others(5): Show a0003c0001t0001 a0005c0008t0001 a0005c0052t0001 a0008c0098t0001 a0016c0027t0001 a0034c0044t0001 a0036c0085t0001 a0041c0084t0006	a0003c0001t0001g0123 a0003c0001t0001g0323 a0005c0008t0001g0322 others(7): Show a0003c0001t0001g0123 a0003c0001t0001g0323 a0005c0008t0001g0322 a0005c0052t0001g0254 a0008c0098t0001g0271 a0016c0027t0001g0203 a0016c0027t0001g0204 a0034c0044t0001g0205 a0036c0085t0001g0133 a0041c0084t0006g0124	10	350	0.0286	625	c.415 others(642): Show c.4152+638_4152+639insTAGTGATGGTGTTGGTGTTGGTGGAGGT AGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGG TGGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGTGTTG GTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGAT GGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGT TGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTG TTGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGT GATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGG TGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGGTG ATGGTGGAGGTGGTGATGGTGTTGTTGATGGTGGAGGTAGTGATGGTGTT GGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTT GTGATGGTGGAGGTAGTGATGCTGTTTGTGATGGTGGAGGTAGTGATGGT GTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAT others(618): Show TTCCATATATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATAT ACATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATA TATATACATACATGGTATATATTCCATATATATATATACATACATGGTAT ATATACATACATGGTATATATTCCTATATATACATACATGGTATATATTC CATATATATATACATACATGGTATATATTCCATATATATACATACATGGA ATATATATATTCCATATATACATATATATATTCCATATATACACATATAT ATATTCCATATATACACATATACATGGAATATATATCTGTATATATATGG AATATATATATATGTATATATATGGAATATATATGTATATGTATTTATAT TATGTATTTATATTATAAATATATATTATGTATATATATTTATATTATAA ATATATATTATGTATATATATTTATATTATAAATATATATTATGTATATA TATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0007 a0001c0002t0018g0007	1	36	0.0278	625	c.474 others(644): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATAT ACATACATGGTATATATTCCATATATATACATACATGGTATATATTCCAT ATATATATATACATACATGGTATATATACATACATGGTATATATTCCTAT ATATACATACATGGTATATATTCCATATATATATACATACATGGTATATA TTCCATATATATACATACATGGAATATATATATTCCATATATACATATAT ATATTCCATATATACACATATATATATTCCATATATACACATATACATGG AATATATATCTGTATATATATGGAATATATATATATGTATATATATGGAA TATATATGTATATGTATTTATATTATGTATTTATATTATAAATATATATT ATGTATATATATTTATATTATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATGTATATATATTTATATTATAAATATATATTATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(618): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGA GCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAG AGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCC AAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCC CCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0004 a0001c0053t0004	a0001c0053t0004g0133 a0001c0053t0004g0133	1	8	0.1250	625	c.140 others(642): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGGACGGACTTGG GGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGACTCGGGCTCT GTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGG GAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGG GACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGG GCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTC TGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACG GACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACT GGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(618): Show CCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCA GTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCAGTCC CTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCAAGTCCCTCC CCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGTCCCTCCCCACAG AGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCC CCCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCCCACAGAGCCCCC CAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCC CTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCC CACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACAGA GCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGTCC CTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCC CCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0026 a0001c0040t0026	a0001c0040t0026g0061 a0001c0040t0026g0061	1	8	0.1250	625	c.140 others(642): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(618): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18945.hp1 NA18960.hp1 others(3): Show HG02886.hp1 NA18945.hp1 NA18960.hp1 NA18962.hp1 NA18982.hp1 NA18995.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0023 a0004c0004t0014	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0053 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0011g0066 a0001c0001t0023g0034 a0004c0004t0014g0103	6	64	0.0938	625	c.155 others(644): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PAK2_chr3_196734857_196837647	196811297	C C	CTTCCTTC others(618): Show CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCC TTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCC TTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCCTCC CCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCT TCCTTTCCTTCCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	131	0.0076	625	c.773 others(640): Show c.773+645_773+646insTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCC TCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCT CCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCCTTCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTT CCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCC TTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCT TCCCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PERM1_chr1_970198_987093	976708	A A	ACCCCCAC others(618): Show ACCCCCACCAACCCCAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCC CCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	399	0.0025	625	c.215 others(640): Show c.2150-85_2150-84insGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGCGGGGGCA GGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGT GGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGG TTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGG GAGGCGGTTCCCGGGGTTGGTCGGGGGAGTGGGAGGCGGTTCCCGGGGTT GCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGG GGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCC GGGGTTGTGGGGGGAGTGGGAGGCGGTTCCTGGGGTTGGTGGGGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar

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