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
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(605): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	177	0.0056	612	c.53+ others(627): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR7_chr18_56646359_57034792	57024511	G G	GATTTCAC others(605): Show GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTACAGGATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTT ATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACT ATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAG GAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTC CCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGT GACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTA TGTCCCTTATAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0014 a0001c0010t0003g0014	1	128	0.0078	612	c.427 others(631): Show c.4270-2450_4270-2449insCTATGATAGTTATGTCCCTTATAGAA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATA GTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAG GGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTAT AGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTAT GATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA CTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGAC AGGAATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCAC ATATCCCTATTCTCAGACAGGAATAGGGATATGTGA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(605): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATATAT CATATATCACACATATGATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATCATATATATCATACATATCACATATATGAT ATATATCATATATATCACATATATCATATATATCATATATATCACATATA TGATATATATATCATATATATCACATATATGATATATATATCATATATAT CACATATATGATATATATATCATATATATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATATCACATATATGATA TATATATCATATATATCACATATATGATATATATATCATATATATCACAT ATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	193	0.0052	612	c.-36 others(623): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATATATCATATATCACACATATGATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATCATATATATCATACA TATCACATATATGATATATATCATATATATCACATATATCATATATATCA TATATATCACATATATGATATATATATCATATATATCACATATATGATAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATATCACATATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(605): Show ATATATATCATATATGTGATATATATCACATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATATGTGATATATATCATATATATCACATATGCTATAT AGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGATA TATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATA TATATGATATATATCACATATATATGATATATATCACATATATATCATAT ATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	243	0.0041	612	c.-34 others(623): Show c.-3475_-3474insTATATATCATATATGTGATATATATCACATATGT GATATATATCATATCACATATCATATGACATATCATATCACATATCACAT ATCACATATCACATATCACATATCATATGATATATATCACATGTGATATA TAGCATATGTGATATATATCATATATATCACATGTGATATATAGCATATG TGATATATATCATATATATCACATATGATATATAGCATATGTGATATATA TCATATATATCACATATGCTATATAGCATATGTGATATATATCATATATA TCACATATGCTATATAGCATACGTGATATATATCATATATATCATATATG ATGTATAGCATGATATATATGCTATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATAT ATATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATAT ATATCATATGTGATATATATGATATATATCACATATATATGATATATATC ACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
AGXT_chr2_240863824_240885500	240872455	G G	GAGGAGGG others(606): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCG TGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTC GTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAG GGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACA TGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTG AGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTG AACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGAT GAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGG CGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT CGTGAACATGCAGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01516.hp2 others(9): Show HG00735.hp2 HG00741.hp2 HG01516.hp2 HG01517.hp2 HG02572.hp1 HG02809.hp2 HG03195.hp1 HG03209.hp2 HG03669.hp2 NA18522.hp1 NA19043.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0029 a0007c0009t0002	a0001c0001t0002g0014 a0001c0001t0003g0018 a0001c0001t0003g0111 others(2): Show a0001c0001t0002g0014 a0001c0001t0003g0018 a0001c0001t0003g0111 a0001c0001t0029g0075 a0007c0009t0002g0014	12	440	0.0273	613	c.525 others(628): Show c.525-517_525-516insTGAGAGTTCGTGAACATGCAGGTGGAGGAG GGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG TAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAG AGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGG AGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGT GAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGG TGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCG TGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGCAGGAGGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGXT_chr2_240863824_240885500	240872455	G G	GAGGAGGG others(606): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCG TGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTC GTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAGGAG GGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGAACA TGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTG AGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCAGGA GGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTG AACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGGAT GAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGG CGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTT TGTGAACATGCAGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03098.hp1 HG01243.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	2	430	0.0047	613	c.525 others(628): Show c.525-517_525-516insTGAGAGTTCGTGAACATGCAGGTGGAGGAG GGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGC AGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGA GGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATG TAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAG AGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGG AGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGT GAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGG TGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAG GCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCG TGAACATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTTGTGAACATGCAGCAGGAGGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AHNAK2_chr14_104932253_104983374	104933612	C C	CGGGAGGG others(606): Show CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGA GGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGG AGGACGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGAC CCGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCG GGAGGGCGGGAGGGGACCTGCGACTGAGGGGACAGGGAGGGCGGGAGGCG ACCCGCGGCTGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGA CAGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACCGGGAGGGCGGGAG GGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGG GGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGA GGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTG AGTGAGGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG02698.hp2 others(4): Show HG01099.hp1 HG01168.hp2 HG02698.hp2 HG02735.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp1	a0004 a0010 a0047 a0004 a0010 a0047	a0004c0006 a0010c0012 a0047c0094 a0004c0006 a0010c0012 a0047c0094	a0004c0006t0004 a0010c0012t0006 a0047c0094t0013 a0004c0006t0004 a0010c0012t0006 a0047c0094t0013	a0004c0006t0004g0051 a0004c0006t0004g0052 a0010c0012t0006g0045 others(4): Show a0004c0006t0004g0051 a0004c0006t0004g0052 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0047c0094t0013g0123	7	273	0.0256	613	c.44 others(624): Show c.4450_*4451insACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCG CCCTCCCGGTCCCCTCAGACGCGGGTCCCCTCCCGCCCTCCCCTCACTCA GCCCCGGGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCC CGCCCTCCCGGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCGGTCCCC TCAGCCGCGGGTCCCCTCCCGCCCTCCCTGTCCCCTCAGCCGCGGGTCCC CTCCCACCCTCCCCTCACTCAGCCGCGGGTCGCCTCCCGCCCTCCCTGTC CCCTCAGTCGCAGGTCCCCTCCCGCCCTCCCGGTCCCCTCAGCCCCGCTC CCCTCCCACCCTCCCCTCACTCAGCCCCGGGTCGCCTCCCGCCCTCCCGG TCCCCTCAGACGCGGGTCCCCTCCCGTCCTCCCCTCACTCAGCCCCGGGT CCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCC CGTCCCCTCAGCCCCGCTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCGCG GGTCCCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGCTCCCCTCCCGCCCT CCCCGTCCCCTCAGCCCCGCTCCCCTCCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3640		chr14	TogoVar
ALLC_chr2_3653200_3707671	3690289	T T	TCCCCCTC others(606): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC CTCCCCCCCTCCCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCTCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0028 a0003c0003t0002g0028	1	264	0.0038	613	c.512 others(630): Show c.512-5424_512-5423insCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCCTCCCCCCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(606): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGG GGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGG GAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGG AGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGA GGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	137	0.0073	613	c.248 others(628): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTC ACCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCCTCCCCTCGCCTTC CCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCA CCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTC CCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCCCC TCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTC CCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTC CACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTT CCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(606): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	613	c.36 others(624): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(606): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGC AGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	267	0.0037	613	c.36 others(624): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCCGACGCGTGCGGCCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCA GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(606): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0076 a0002c0002t0006g0076	1	123	0.0081	613	c.784 others(628): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(606): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGG GAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGG AGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAG CGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGA GGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAG TGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	8	0.1250	613	c.-70 others(622): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGG GGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAA GGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGG GGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGA AGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAG AAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(606): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATAATATAATTTA TTATATTATATAATGATATATAATATAATTTATTATATTATATAATGATA TATAATATAATTTATTATATTATATAATGATATATAATATAATTTATTAT ATTATATAATGATATATAATATAATTTATTATATTATATAATGATATATA ATATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTA TATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0011 a0002c0007t0002g0011	1	358	0.0028	613	c.39 others(624): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATA TCATTATATAATATAATAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATAT TATATATCATTATATAATATAATAAATTATATTATATATCATTATATAAT ATAATAAATTATATTATATATCATTATATAATATAATAAATTATATTATA TATCATTATATAATATAATAAATTATATTATATATCATTATATAATATAA TAAATTATATTATATATCATTATATAATATAATAAATTATATTATATATC ATTATATAATATAATAAATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(606): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0024 a0001c0003t0006 a0001c0003t0024	a0001c0003t0006g0027 a0001c0003t0024g0004 a0001c0003t0006g0027 a0001c0003t0024g0004	2	135	0.0148	613	c.238 others(632): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(606): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCC CTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	12	0.0833	613	c.-45 others(634): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC ACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0221 a0001c0001t0023g0221	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG02451.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0319 a0001c0001t0024g0320 a0001c0001t0001g0319 a0001c0001t0024g0320	2	3	0.6667	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCA GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGCACC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0309 a0001c0003t0011g0309	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCA GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGGGCACC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0308 a0001c0003t0011g0308	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCA GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTGTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18906.hp2 HG02735.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0216 a0001c0001t0003g0074 a0001c0001t0003g0216	2	3	0.6667	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAACAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00597.hp1 others(93): Show HG00323.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02132.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0098 a0001c0001t0002g0028 a0001c0001t0002g0029 others(92): Show a0001c0001t0001g0098 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0076 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0103 a0001c0001t0003g0210 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0321 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0008g0089 a0001c0001t0008g0099 a0001c0001t0014g0079 a0001c0001t0015g0064 a0001c0001t0020g0097 a0001c0001t0021g0082 a0001c0001t0028g0034	96	97	0.9897	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG02572.hp2 others(1): Show HG02109.hp2 HG02258.hp2 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0185 a0001c0001t0007g0016 a0001c0001t0007g0119 others(1): Show a0001c0001t0005g0185 a0001c0001t0007g0016 a0001c0001t0007g0119 a0001c0001t0007g0211	4	5	0.8000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(25): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02523.hp2 HG04184.hp2 NA18942.hp2 NA18944.hp2 NA18964.hp1 NA18972.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18988.hp1 NA18993.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19074.hp1 NA19083.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0025 a0001c0001t0002g0222 a0001c0001t0002g0223 others(25): Show a0001c0001t0002g0025 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0004t0002g0303	28	29	0.9655	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0101 a0001c0001t0010g0102 a0001c0001t0010g0101 a0001c0001t0010g0102	2	3	0.6667	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp1 others(69): Show HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01255.hp1 HG01978.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp2 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(69): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0301 a0001c0001t0003g0194 a0001c0001t0009g0020 a0001c0001t0009g0132 a0001c0001t0022g0149	72	73	0.9863	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00544.hp2 others(75): Show HG00280.hp2 HG00323.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG02055.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp1 HG02300.hp2 HG02451.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 NA18947.hp1 NA18949.hp1 NA18956.hp1 NA18963.hp1 NA18966.hp1 NA18971.hp2 NA18982.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19082.hp2 NA19084.hp2 NA19089.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0025 a0001c0001t0027 a0001c0002t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(75): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0024 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0006g0104 a0001c0001t0006g0111 a0001c0001t0006g0113 a0001c0001t0006g0114 a0001c0001t0006g0117 a0001c0001t0012g0251 a0001c0001t0012g0258 a0001c0001t0017g0255 a0001c0001t0025g0284 a0001c0001t0027g0225 a0001c0002t0002g0299 a0001c0002t0002g0300	78	79	0.9873	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACCCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGTTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0291 a0001c0001t0026g0291	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGAACCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGGGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTAGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCTAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01496.hp1 others(36): Show HG01243.hp1 HG01261.hp2 HG01496.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0005g0021 a0001c0001t0005g0165 a0001c0001t0005g0183 a0001c0001t0005g0186 a0001c0001t0013g0333 a0001c0001t0018g0138 a0001c0001t0019g0182	39	40	0.9750	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGTC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02922.hp2 HG03453.hp1 others(1): Show HG02615.hp1 HG02922.hp2 HG03453.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 others(1): Show a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339	4	5	0.8000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGACCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	2	0.5000	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CELF1_chr11_47460937_47558132	47557553	G G	GTCGCCCA others(606): Show GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCCTATTTTTCTTTTTAAAGAGACAGGGTCAGGCCGGGC ACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTCCTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTG GGAGGCGGAGCTTGCAGTGAGCTGAGATCCGGCCACTGCACTCCAGCCTG GGCGACGGAGCGAGACTCCGTCTCAAAAATAAATAAATAAATAAAGAGAC AGGGTCTCGCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG02486.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0328 a0001c0001t0005g0332 a0001c0001t0001g0328 a0001c0001t0005g0332	2	3	0.6667	613	c.-47 others(624): Show c.-4716_-4715insTATAGCGAGACCCTGTCTCTTTATTTATTTATTT ATTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCTGGAGTGCAGTGGCC GGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCG GCTAATTTTTTTGTATTTTTAGGAGAGACGGGGTTTCACCGTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGACCCTGTCTC TTTAAAAAGAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA ACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGA	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding		4422		chr11	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(606): Show AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATATA AAATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAA ATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATA TAAAATATTTTATTTATTTATTTTAATATATAAAATATTTATTTTATTTA TTATTTTAATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	341	0.0029	613	c.80- others(628): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT ATTTATTTTATTTATTATTTTAATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(606): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATATCATATATATTCATATATATATCATATATAT TCATATATATCATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19060.hp1 HG02040.hp2 NA19060.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0037 a0001c0007t0005 a0001c0005t0037 a0001c0007t0005	a0001c0005t0037g0081 a0001c0007t0005g0025 a0001c0005t0037g0081 a0001c0007t0005g0025	2	5	0.4000	613	c.267 others(630): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATATCATATATATTCATATATATATCATATATATTC ATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(606): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATATATATTTA TAAATATATAAATATATATATATTTATAAATATATAAATATATATAAAAA TATATATAAATATATAAAAAATATAAATATATATAAATATATAAATATAT GTAAATATATATAAATATATATATAAATATATATATAAATATATATATAA ATATATATATAAATATATATATATAAATATATATAAATATATAACTATAT AAATAAATATATATAAATATATAAATATATAAAAATATATATAAATATAT ATGTAAATATATAAATATATATAAATATATATAAATATATATAAGTATAT AAATATATATAAATATATATAAGTATATAAATATATATATAAATATATAT AAGTATATAAATATATATATAAATATATATAAGTATATAAATATATATAA ATATATATAAGTATATAAATATATATATAAATATATATAAGTATATATAA ATATATATAAATATATATAAGTATATATAAATATATAAAAATATATATAA GTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	119	0.0084	613	c.181 others(632): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATTTATATATATTTACATATATATTTAGAATTACATATTTATA TATATATTTATATTTATATATATTTATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(606): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGGGGAGGGGAGGGGAGGGGGA GAGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGA GGGGGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGG AGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGAGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	16	0.0625	613	c.416 others(634): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCC TCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCC CTCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CYP4F11_chr19_15907377_15939529	15933656	G G	GTGGAATG others(606): Show GTGGAATGCGTGAGGGGGGGAGGATGAGTGAGCGGGCAGAGGAATGAGTG AGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGA GGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGAATGAGTGA GCGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAG GAATGAGTGAGTGGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGATGT GAGCGGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATGACGTGAGCGGGG AGAGGAATGAGTGAGCGGGGCAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGA ATGAAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGAGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAG GAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGA GCGGGGCAGAGGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0060 a0002c0001t0060	a0002c0001t0060g0020 a0002c0001t0060g0020	1	384	0.0026	613	c.198 others(628): Show c.198+554_198+555insTTCCTCTGCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTCTCCCGCTCACTCATTCCTCTG CCCGCTCACTCATTCCTCTCCCCGCTCACTTCATTCCTCTGCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCCCCGCTCACTCATTCC TCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTGCCCACT CACTCATTCCTCTGCCCCGCTCACTCATTCCTCTCCCCGCTCACGTCATT CCTCTGCCCACTCACTCATTCCTCTGCCCCGCTCACATCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCCACTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGCCCACTCACTCATTCCTCTGCCCGCTCACTCATTCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCC CGCTCACTCATCCTCCCCCCCTCACGCATTCCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(606): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGG GGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAG GGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAAGGGGGAGACA GAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	164	0.0061	613	c.923 others(632): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTT CCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTC CCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCC TCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(606): Show CCACCCGCACCCGCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCC CACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACC CCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCT CACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACC CCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCG CACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACC CCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCT CACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCA CCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACC CCCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	253	0.0040	613	c.39 others(624): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGGTG GGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(606): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG AGGGAGGGGGGAGGAGGAGGGGGGAGGAGGGGGGGGAGGAGGGGGGAGGA GGAGGGGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGG GAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGG GAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGGGAGGGG GAGGGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0111 a0111	a0111c0046 a0111c0046	a0111c0046t0001 a0111c0046t0001	a0111c0046t0001g0102 a0111c0046t0001g0102	1	98	0.0102	613	c.118 others(632): Show c.11806-562_11806-561insCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTC CTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC CTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTC CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCCCCT CCTCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCC CTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCC CTCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCTCCTCCCTCCTCC TCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(606): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACCA CCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCACC ATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACC ACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACCTC CATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCA CTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCA TTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01071.hp1 others(11): Show HG00558.hp2 HG00673.hp1 HG01071.hp1 HG01071.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02922.hp2 HG02965.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(7): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0001c0016 a0001c0024 a0002c0002 a0002c0019 a0002c0022	a0001c0001t0001 a0001c0001t0016 a0001c0003t0007 others(11): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0007 a0001c0003t0008 a0001c0006t0002 a0001c0006t0003 a0001c0007t0005 a0001c0007t0019 a0001c0010t0010 a0001c0016t0013 a0001c0024t0028 a0002c0002t0002 a0002c0019t0001 a0002c0022t0023	a0001c0001t0001g0019 a0001c0001t0016g0005 a0001c0003t0007g0024 others(11): Show a0001c0001t0001g0019 a0001c0001t0016g0005 a0001c0003t0007g0024 a0001c0003t0008g0025 a0001c0006t0002g0015 a0001c0006t0003g0014 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0010t0010g0009 a0001c0016t0013g0012 a0001c0024t0028g0002 a0002c0002t0002g0021 a0002c0019t0001g0020 a0002c0022t0023g0027	14	15	0.9333	613	c.113 others(632): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCAC CACCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCA CCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCA TCACCACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACC ACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAG CACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCAC CTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(606): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACCA CCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCACC ATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACC ACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACCACCACCTC CATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCA CTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCA TTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02486.hp1 HG02486.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0004 a0002c0009t0004 a0002c0004t0004 a0002c0009t0004	a0002c0004t0004g0008 a0002c0009t0004g0004 a0002c0004t0004g0008 a0002c0009t0004g0004	2	3	0.6667	613	c.113 others(632): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCAC CACCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCA CCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCA TCACCACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACCACC ACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAG CACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCAC CTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATAATT others(606): Show ATATAATTATATATAATATATAATATATTATATATTATATATATTATATA AAATATAATATATTATATATAATTATATATTATATATTATATATAATATA TAATTATATGTTATATATTATATATATTATATATTATATATATATTATAT ATATAATATATATTATATATTAAATTATATATAATATATATTATATATAT AATTTATATATATAAAATATATTATATATTATATAAATATATATATTTTA TATATATAAAATATATATTTTATAATATATAATATAGAAATGTATATTAT ATAATATATAATTATATATAATTATATATTATATAATATATATTTCTATA TTATATATTTATAATGTATAATATATAAATATATTATAAATATATATTAT ATACTATATAATGCATTATAAATATATTATATTTATATATTATAAATATA TTACATATTTATATATTATATATATAATATATATATTATATATTATAAAT ATATTTTATAAAATATAATATATATATTATATATTATATATTATAAATAT ATTTTATAAAATATAATATATATATTATATATTATATTTTATAAAATATA ATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	92	0.0109	613	c.551 others(632): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATATATAATATATATATTATATTTTATAAAATATATTTATAATA TATAATATATAATATATATATTATATTTTATAAAATATATTTATAATATA TAATATATATATTATATATATAATATATAAATATGTAATATATTTATAAT ATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATATT TATAATATATTTATATATTATACATTATAAATATATAATATAGAAATATA TATTATATAATATATAATTATATATAATTATATATTATATAATATACATT TCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATAT ATTTATATAATATATAATATATTTTATATATATAAATTATATATATAATA TATATTATATATAATTTAATATATAATATATATTATATATATAATATATA TATAATATATAATATATATAATATATAACATATAATTATATATTATATAT AATATATAATATATAATTATATATAATATATTATATTTTATATAATATAT ATAATATATAATATATTATATATTATATATAATTATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(606): Show GGAGGTGAGGGGCAGGGGAGGGGAGATGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGG TGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATGAGAGGC AGGTGAGGTGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACGGGAGGTG AGGTGAGGGTCAGGGGAGGTGAGAGGCAGGTGAGGTGAGATGAGGGGCAG GGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGA GGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGGGCAGGTGAGAT GAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGA GGTGAGATGAGGGGCAGGTGAGGTGAGACGTGGGGCAGGTGAGGTGAGGG ACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGACAGGTGA GGTGAGGGGCAGGGGAGGTGAGGCGAGGGTCAGGGAAGCTGAGGCGAGGG GCAGGGGAGGTGAGGTAAGGGGCAGGGGAGGTGAGGGGCAGGGGAGGTGA GGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	65	0.0154	613	c.62- others(630): Show c.62-26570_62-26569insGCAGGGGAGGGGAGATGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGG GGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGG AGATGAGAGGCAGGTGAGGTGAGATGAGGGGCAGGGAAGGTGAGATGAGG GACGGGAGGTGAGGTGAGGGTCAGGGGAGGTGAGAGGCAGGTGAGGTGAG ATGAGGGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGA TGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGG GCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGAGATGA GGGGCAGGTGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGTGGGGCAGG TGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGA GGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCGAGGGTCAGGGAAGC TGAGGCGAGGGGCAGGGGAGGTGAGGTAAGGGGCAGGGGAGGTGAGGGGC AGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	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(606): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGTGAGGGGC AGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGG TGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATGAGGGGCAGGTG AGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACGGGAGGTGAGGTG AGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAG ATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGA GGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGAT GAGGGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGCAAGGGAGGTGA GATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAGACGTGGG GCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGA GGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAGGGTCAGG GAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGA GGGGCAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0235 a0001c0001t0008g0234 a0001c0001t0006g0235 a0001c0001t0008g0234	2	66	0.0303	613	c.62- others(630): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGTGAGGGGCAGGGGAGGGGAGGGGCAAGGGAGGTGAGGTGAGGGGCAG GGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGGTGAGATG AGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGAGGGACGG GAGGTGAGGTGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAG GGGCAGGGGAGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGG AGGTGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGG GGAGGTGAGATGAGGGGCAGGTGAGATGAGGGGCAGGTGAGGTGAGGGGC AAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGG TGAGACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGC AGGGGAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGG CAAGGGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGC AGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNS_chr16_88808734_88861947	88831223	C C	CGAGCACG others(606): Show CGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCCGAGCACGGGG TGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGA GCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTG GGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGT GAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGG GGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGG AGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0034	1	401	0.0025	613	c.100 others(630): Show c.1002+774_1002+775insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCT GTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCT CCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCG TGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACC GCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCAC GCTCCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCG GCCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(606): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAA ACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGG AGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	13	0.0769	613	c.978 others(630): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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