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
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(619): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0261 a0009c0017t0002g0261	1	297	0.0034	626	c.391 others(641): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478090	G G	GGTGGGGG others(619): Show GGTGGGGGAGAGGGGGGAGAGAGGTGGGGGAGAGGGGGGGAGAGGGGGGG GGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGGAGGGGGGAGAGAGGGGA GAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGGAGGG GGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGG AGGGAGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGGG AGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGAGGGGG AGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGAGGGGGGGAGAGGGGGGAG GGGGGAGGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGG GAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGGAG AGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGA GAGGGGGGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGGGAGGG GGGAGGGGGGGAGGGGGAGGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGA GGGGGGAGGGGGGAGAGGGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0160 a0002c0002t0006g0160	1	137	0.0073	626	c.525 others(643): Show c.525+8391_525+8392insTCTCTCCCCCCTCTCCCCCCTCCCCCCT CTCCCCCCTCCCCCTCTCCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCC CCTCCCCCCCCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCCTC TCCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCCCTCCCCCC TCCCCCCTCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCCCTCTCCTC CCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCCCTCTCCTCCCTC CCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCC CCTCCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCT CCCCTCTCTCCCCCCTCCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCC CCCCCCTCTCCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCAC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(619): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCT CCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCC TCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	4	0.2500	626	c.114 others(645): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCC TCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTC CTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(619): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	168	0.0060	626	c.394 others(641): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATA TATATATTCATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(619): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAGTTTATATAGTT TAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTT TAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAA ACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTAT ATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAA CTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATAT TTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0192 a0002c0001t0001g0192	1	38	0.0263	626	c.342 others(645): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTAC ATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTT AAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAA CTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTT AAACTATATAAACTATAGTTTTAAACTATATAAACTATATAGTTTTAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTA TATAAACTAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAA CTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACT ATATAGTTTAAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(619): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19007.hp1 NA19070.hp1 NA19004.hp1 NA19007.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0022g0089 a0001c0001t0001g0015 a0001c0001t0001g0045 a0001c0001t0022g0089	3	61	0.0492	626	c.155 others(645): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(619): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03942.hp1 HG02451.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0004g0011 a0001c0001t0001g0050 a0001c0001t0004g0011	2	60	0.0333	626	c.155 others(645): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(619): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGTC CGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCC CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0143 a0001c0001t0009g0143	1	59	0.0169	626	c.155 others(645): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACC TCCCGGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(619): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	254	0.0039	626	c.-16 others(637): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(619): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA CTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	254	0.0039	626	c.-16 others(637): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATAC TATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PLEKHN1_chr1_961482_980865	976843	C C	CAACCCCG others(619): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCC CCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCACCAAC CCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	412	0.0024	626	c.22 others(637): Show c.2268_*2269insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		979		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(619): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTC CCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCT TCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCT CTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTC CCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTGTCCCATCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCC CTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCCTCCTT CTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0167 a0001c0001t0031g0167	1	62	0.0161	626	c.439 others(645): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCCTCTCATCCCCTTCCTCTTTCTCTCC CTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTT TCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTT CCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTCCCTCT CTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCT CCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKX_chrX_3599340_3718649	3639324	G G	GGGGTGGA others(619): Show GGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGA TGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGA TGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATG AAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGG GGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGG GGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTG GATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGTGGAT GGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGG ATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATG AAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGGATGA AGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGG GTGGGGGGGGTGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0068 a0001c0001t0071g0068	1	213	0.0047	626	c.719 others(643): Show c.719+2527_719+2528insACCCCTTCATCCATCCACCCCCCCCACC CCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTT CATCCATCCACCCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTC ATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATC CATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCA TCCACCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCC ACCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCC CCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCACCC CTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTC ATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCAT CCATCCACCCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCAT CCACCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCAC CCCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(619): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTG GTGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	136	0.0074	626	c.-32 others(647): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATCACCACCACCACAACTA CCATCATCACCACCATTATCACTATTATCACCACCGTTACCACCACCACT GCCATCACCACCATCATCGCCATTATCACCATTACCATTGCCATCACCAT CACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTG CCACCACCATCACCACCATCATTACTATCATCACCACCACCACCATCACT GACATGATCACCATTACCACCACCACCACTGCCGTCACCACCATTATCAC TATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTA TCATCATCACCATCACCACCATCATCGCCATTATCACCATTACCATCGCC ATCACCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCAT TGCCATCACTATCACCACCATCATGACTATCATCACCATCACCACCACCA CCACCATCACTGACATATAATCACCATTACCACCACCACCATTATCACTG TCATCATCATCTCCATCAATACCACCACCATCATCACCACCATCACCACC AC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8501936	G G	GGGGGGGT others(619): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAG GGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGAAGGTGGGGGGGATCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCACGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCACG GCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	202	0.0050	626	c.880 others(643): Show c.880-4408_880-4407insACCTCCCTCCCGGACGGGGCGGCTGGCC GTGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGGCTGATCCCCCCCACCTTCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCC TCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(619): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATATAATT TTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	121	0.0083	626	c.59- others(643): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATATACA CACACACACACACACACACACACATATACATACACATATATATGTGTGTA TATATACATGTATATATATGTATGTATATATGTGTATATATACATGTATA TATGTATGTATATATACGTGTATATTATGTATATATATACACATGATATA TATGTATGTATATATCATGTATATATATACATATATGTGTATATATACAC GATATATATGTGTATATATCATGTATATATATACATGTATACAATATATT ATATATACATATATATTATATACATGTATATATACCTGTATACAATATAT TATATATACGTGTATATAATATATATACACGTATATATATTGTATACACG TATATATAATATATACTTTATATATAATATATACATGTATATATATACTA TATATTATATATTAATATATACATGTATAATATATACATGTATATATTAT ATATACATATATATGTATATATAATATATACATATATGTACATATAATAT ACATGTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMD11_chr1_918923_949574	934123	G G	GGGGGCGG others(619): Show GGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGC AGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGC GTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGGCGGCTCCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0236 a0002c0003t0004g0236	1	431	0.0023	626	c.843 others(643): Show c.843-1648_843-1647insGGGCGGCTGCGTTACAGGTGGGCGGGGG CGGCTGCGTTACAGGTGGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTCCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTAC AGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGGCGGCTCCGTTACAGGTGGGCAG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289946	T T	TCCCCCGT others(619): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	258	0.0039	626	c.166 others(643): Show c.1663-322_1663-321insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(619): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCAC CCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0142 a0001c0001t0012g0142	1	40	0.0250	626	c.77- others(643): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(619): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCAC CCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0069 a0001c0001t0024g0069	1	45	0.0222	626	c.22+ others(643): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCTCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCCTCCCCACCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHC2_chr19_411589_466033	432120	T T	TAGATGGC others(619): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGT GAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCAGATAGATGGCGCTTCA TCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATG GCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCAGGCA GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAG GCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGT TAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATC GTGAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	203	0.0049	626	c.111 others(645): Show c.1111-1374_1111-1373insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCTGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCG CCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTATCTGCCTGGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACG ATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCT CACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCT CTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCT GGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SKI_chr1_2223319_2315213	2281859	C C	CGCCCGAG others(619): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGA TCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGA GATCTTCAGAGAGAAGACACGTGAGAAGACAGGCGGCGGCGGAGATCTTC AGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGA GGATGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCC CGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCG GTGGCGGAGATCTTCATAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0186 a0002c0004t0001g0186	1	243	0.0041	626	c.970 others(645): Show c.970-21073_970-21072insTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAG AGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAG GCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGG CGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTG AGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC AGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCTGAGAAGACAGGCGGT GGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCA GAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAG AGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(619): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATAATA TATATAGTATATATTATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATAATATATATATTGTATATATTATA TATTGTATATATAATATATATTGTATATATTATATATTGTATATATAATA TATATATTGTATATATTATATATTGTATATATAATATATATATTGTATAT ATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTAT ATATAATATATATATTGTATATATTATATATTGTATATATAATATATATA TTGTATATATTATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	123	0.0081	626	c.176 others(643): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATTATATATACAATAT ATAATATATACAATATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATAATATATACTATATAT ATTATATACAATATATAATATATACTATATATATTATATACAATATATAA TATATACTATATATATTATATACAATATATAATATATACTATATATATTA TATATACAATATAAAATATATATAATATATATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(619): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAG GGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGG GAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGG AGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGG GAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGA GGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	626	c.12 others(637): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCC TTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCC TCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTC CCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTC CTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTC CCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCC CTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTC CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(619): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGAGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGA GGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	626	c.12 others(637): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTTCCCCATCCTCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCC TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(619): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGGGGGAGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAG GGGGGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAA GGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAA GGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGA GGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	626	c.12 others(637): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCC TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(619): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	4	0.2500	626	c.157 others(645): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCC GTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGT TCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACC CCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCC ACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCAC CCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(619): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	4	0.2500	626	c.157 others(645): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCT CCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCC GTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGT TCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCACC CCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCC ACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCAC CCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(619): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAGCGG GGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAGCGGGGTGGGAGAGCAG GGTGGGAGGGGGTGGGAGAACGGGGTGGGGGTGGGAGGGGGTGGGAGAAC GGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGG GGTGGGGGTGAGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGA ACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAAC GGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGG GGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGG AGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	4	0.2500	626	c.157 others(645): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCAC CCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCC CGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGCTGTCCCACCCCGCTCTCAC CCCGCTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCAC CCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTC CCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(619): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	111	0.0090	626	c.924 others(643): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAACAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(619): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTC TCTCTCCTCTCTCCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCGTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTTTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0077 a0001c0003t0001g0077	1	111	0.0090	626	c.924 others(643): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GACGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGGAGAGAGGAGAGAG AGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGGACAGA GAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(619): Show GTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTGTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	158	0.0063	626	c.924 others(643): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA CAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02976.hp1 HG03195.hp1 others(1): Show HG02257.hp2 HG02976.hp1 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	181	0.0221	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02559.hp2 HG02630.hp1 others(7): Show HG02132.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG03130.hp1 NA18906.hp2 NA19043.hp2 NA19074.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0007g0062	10	187	0.0535	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	178	0.0056	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCTGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03490.hp1 HG03492.hp1 others(19): Show HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03834.hp1 NA18941.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18985.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp2 NA19010.hp2 NA19077.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0002t0002g0004	22	199	0.1106	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCTTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	178	0.0056	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCTTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	178	0.0056	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCTGGGCAGAAGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	178	0.0056	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACTTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	179	0.0112	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGATCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	178	0.0056	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGATCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TM4SF1_chr3_149364022_149382649	149380314	G G	GCCCCGCC others(619): Show GCCCCGCCAGCCACCCCGTCCGGGAGGGAGGTGTGGGGGTCAGCCCCCCG CCTGGCCAGCCACCCCGTCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGCAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCACCTCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCATCCGGG AGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCATCTGGGAGGGAGGTTTGGGGGTCAGCCCCC CGCCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGAGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG03041.hp2 others(2): Show HG02258.hp1 HG02280.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005	5	182	0.0275	626	c.-27 others(637): Show c.-2768_-2767insTGGGGGGCTGACCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACTCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCT GACCCCCAAACCTCCCTCCCAGATGGGGCGGCTGGCCGGGTGGGGGGCTG ACCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGTGGCTGGGCAGAGGCGCCCCTCACCTCCCGGAT GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGAGGTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTGCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCTCCCCGCCTCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGG CTGACCCCCACACCTCCCTCCCGGACGGGGTGGCTGGCGGGG	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2666		chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(619): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTAC CCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCC CTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTC CCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0041 a0002c0005t0002g0041	1	10	0.1000	626	c.-25 others(645): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACC CTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCC TCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCC CCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(619): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTGCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTT TCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCC CTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTTCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0137 a0001c0001t0014g0137	1	8	0.1250	626	c.424 others(643): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTGCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTTCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(619): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	149	0.0067	626	c.28 others(637): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(619): Show TTATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATATAAATTATATATATATTATATATATATATAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATACATAAAAATTATATATATAT TATATATACATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATAATATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	626	c.29 others(637): Show c.2994_*2995insTATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATATAAATTATATATATATTATATATATATATAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATACATAA AAATTATATATATATTATATATACATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATAATATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRPM7_chr15_50552158_50691797	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATATTATATATATGTGTATAT ATATAATATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATTATATATATGT GTATATATATAATATATATATATATTATATATATGTGTATATATATAATA TATATATATTATATATATGTGTATATATATAATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TTATATATATGTGTATATATATAATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0008 a0001c0001t0017g0008	1	347	0.0029	626	c.3+7 others(639): Show c.3+7053_3+7054insTATATATATACACATATATATAATATATATAT ATTATATATATACACATATATATAATATATATATATATTATATATATACA CATATATATAATATATATATATTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATTATATATATACACATATATATAATATATATATATATTATATA TATACACATATATATAATATATATATATATTATATATATACACATATATA TAATATATATATATTATATATATACACATATATATAATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TRPM7_chr15_50552158_50691797	50679477	T T	TATATATA others(619): Show TATATATATATTATATATATGTGTATATATATAATATATATATATATTAT ATATATGTGTATATATATAATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATATTATATATATGTGTATATATATAATATA TATATATATTATATATATGTGTATATATATAATATATATATATATTATAT ATATGTGTATATATATAATATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATTATATATATGTGTATATATATAATATATATATATA TTATATATATGTGTATATATATAATATATATATATATTATATATATGTGT ATATATATAATATATATATATTATATATATGTGTATATATATAATATATA TATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0007 a0001c0001t0017g0007	1	347	0.0029	626	c.3+7 others(639): Show c.3+7053_3+7054ins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	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(619): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATTATATCATCATATGATGATATGATACTATTATATCAT CATATGATGATATGATACTATTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0085 a0002c0003t0085	a0002c0003t0085g0066 a0002c0003t0085g0066	1	141	0.0071	626	c.41- others(643): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870360	C C	CACCACAC others(619): Show CACCACACAAACCACACACCCTACACACCCCACACACACCACACACCACA CACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACA CACACCCCACACACACCACACACCCCACACACACCACACACCCCATACAC ACCACACCCCACACACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACACACCACACACCCC ACACACCCCACACACACCACACACCCTACACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACACACCACACACACCACACA CCCTACACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACACACCACACACCCCACACACACCACACCCCACACACACCC CACACACCACACACACACCACACACCCCACACACACCACACAAACCACAC ACCCTACACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	303	0.0033	626	c.35 others(645): Show c.35+21629_*35+21630insCACACAAACCACACACCCTACACACC CCACACACACCACACACCACACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCCCACACACACCACACACCCCACA CACACCACACACCCCATACACACCACACCCCACACACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACACACCACACACCCCACACACCCCACACACACCACACACCCTAC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACACACCACACACACCACACACCCTACACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACACACCACACACCCCACACA CACCACACCCCACACACACCCCACACACCACACACACACCACACACCCCA CACACACCACACAAACCACACACCCTACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCCCACACACACCACACCCCATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

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