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
AK5_chr1_77277019_77564966	77367694	T T	TTATATAT others(185): Show TTATATATATGTTATATATAATATATGTTATATATGTTATATATATGTTA TATATATGTAATATATATGTTATATATGTAATATATATATTATGTTATAT ATGTTATATATATGTTATATATACGTTATATGTTATATATATGTTATATA TATGTTATATATAATATATGTTATATATACGTTATATGTTATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0091 a0001c0009t0004g0091	1	200	0.0050	192	c.891 others(211): Show c.891+27131_891+27132insATATGTTATATATAATATATGTTATA TATGTTATATATATGTTATATATATGTAATATATATGTTATATATGTAAT ATATATATTATGTTATATATGTTATATATATGTTATATATACGTTATATG TTATATATATGTTATATATATGTTATATATAATATATGTTATATATACGT TATATGTTATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG13_chrX_111676170_111765649	111721071	A A	AAGAAGGA others(185): Show AAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAA TTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGA AGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCT TCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02897.hp2 HG03540.hp1 others(2): Show HG01243.hp1 HG02897.hp2 HG03540.hp1 NA18961.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0013t0001 a0002c0003t0001 a0001c0001t0001 a0001c0013t0001 a0002c0003t0001	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0069 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0013t0001g0042 a0002c0003t0001g0111	5	25	0.2000	192	c.132 others(208): Show c.1327-233_1327-42dupAACTTAATTCTTCCTTCTTCATAGAAGGA AGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCT TCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTTCATAGAAGGAAGAA ACTTAATTCTTCCTTCTTCATAGAAGGAAGAAACTTAATTCTTCCTTCTT CATAGAAGGAAGA	ALG13	ENSG00000101901.13	transcript	ENST00000394780.8	protein_coding	11/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALLC_chr2_3653200_3707671	3690396	T T	TCCCCCCT others(185): Show TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0211 a0003c0003t0002g0211	1	242	0.0041	192	c.512 others(209): Show c.512-5317_512-5316insCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMER2_chr13_25156679_25177288	25159145	A A	AATATATT others(185): Show AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCTCATATATATTATA TATGCTCATATATTATATATGCTCATATATATTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03491.hp1 HG03492.hp1 others(2): Show HG02258.hp1 HG03491.hp1 HG03492.hp1 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0038 a0001c0001t0067 a0001c0001t0003 a0001c0001t0038 a0001c0001t0067	a0001c0001t0003g0000 a0001c0001t0038g0000 a0001c0001t0067g0000 a0001c0001t0003g0000 a0001c0001t0038g0000 a0001c0001t0067g0000	5	400	0.0125	192	c.10 others(205): Show c.10458_*10459insGAGCATATATAATATATATGAGCATATATAAT ATATGAGCATATATAATATATATGAGCATATATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2533		chr13	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(185): Show GGGGGAGAGGGGAGAGGGGGGAGAGGGGAGAGGGGGATGGGGGGGAGAGG GGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGAGGGGGAGAG GGGAGGGGAGGGGGGAGAGGGGGAGGGAGGGGGAGAGGGGGGAGGGGAGA GGGGGAGAGAGAGGGAGTGAGGGGGGAGGGGGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0106 a0004c0004t0002g0106	1	36	0.0278	192	c.667 others(207): Show c.667-817_667-816insTCTCCCTCTCCCCCCCTCCCCCCTCACTCC CTCTCTCTCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCTCCCCCTCTCC CCCCTCCCCTCCCCTCTCCCCCTCCCCCCCCTCCCCTCCCCCTTCCCCCT CTCCCCCCTCTCCCCTCTCCCCCCCATCCCCCTCTCCCCTCTCCCCCCTC TCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANO2_chr12_5557655_5950259	5617183	C C	CCAGATCA others(185): Show CCAGATCACACTGTACCACACCCTCAAGATCACAATGTACCATACTCTCC AATTCACACCATACCAAACTCTCCAGATCACAGTGTACCACCCTCTCCAG ATTACATCGTACCACACTCTCCAGATAACACTATATCACAACCTCAAGCT CACACTGTACCACACCTTCTGGATCACAGTGTGCCACACTCTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp2 HG03209.hp1 HG03471.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0003 a0005c0010t0003 a0001c0001t0003 a0005c0010t0003	a0001c0001t0003g0015 a0005c0010t0003g0006 a0001c0001t0003g0015 a0005c0010t0003g0006	2	120	0.0167	192	c.181 others(211): Show c.1817-1887_1817-1886insCAGAGTGTGGCACACTGTGATCCAGA AGGTGTGGTACAGTGTGAGCTTGAGGTTGTGATATAGTGTTATCTGGAGA GTGTGGTACGATGTAATCTGGAGAGGGTGGTACACTGTGATCTGGAGAGT TTGGTATGGTGTGAATTGGAGAGTATGGTACATTGTGATCTTGAGGGTGT GGTACAGTGTGATCTG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	16/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5617183	C C	CCAGATCA others(185): Show CCAGATCACACTGTACCACACCCTCAAGATCACAATGTACCATACTCTCC AATTCACACCATACCAAACTCTCCAGATCACAGTGTACCACCCTCTCCAG ATTACATCGTACCACACTCTCCAGATAACACTGTATCACAACCTCAAGCT CACACTGTACCACACCTTCTGGATCACAGTGTGCCACACTCTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00642.hp2 others(37): Show HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01074.hp1 HG01346.hp1 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03704.hp2 HG04204.hp1 NA18612.hp2 NA18944.hp1 NA19030.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0009 a0011	a0001c0001 a0001c0002 a0001c0016 others(10): Show a0001c0001 a0001c0002 a0001c0016 a0001c0024 a0002c0003 a0002c0006 a0003c0004 a0003c0007 a0003c0011 a0006c0013 a0008c0012 a0009c0022 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0016t0002 a0001c0024t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0002c0003t0008 a0002c0006t0001 a0003c0004t0001 a0003c0007t0001 a0003c0011t0001 a0006c0013t0001 a0008c0012t0002 a0009c0022t0002 a0011c0017t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(37): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0002g0133 a0001c0001t0002g0152 a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0005g0139 a0001c0001t0005g0156 a0001c0001t0009g0058 a0001c0002t0001g0022 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0002g0126 a0001c0016t0002g0157 a0001c0024t0001g0074 a0002c0003t0001g0025 a0002c0003t0002g0147 a0002c0003t0002g0155 a0002c0003t0007g0137 a0002c0003t0007g0142 a0002c0003t0008g0050 a0002c0006t0001g0099 a0003c0004t0001g0030 a0003c0007t0001g0039 a0003c0011t0001g0072 a0006c0013t0001g0094 a0006c0013t0001g0123 a0008c0012t0002g0146 a0009c0022t0002g0129 a0011c0017t0001g0093	40	158	0.2532	192	c.181 others(211): Show c.1817-1887_1817-1886insCAGAGTGTGGCACACTGTGATCCAGA AGGTGTGGTACAGTGTGAGCTTGAGGTTGTGATACAGTGTTATCTGGAGA GTGTGGTACGATGTAATCTGGAGAGGGTGGTACACTGTGATCTGGAGAGT TTGGTATGGTGTGAATTGGAGAGTATGGTACATTGTGATCTTGAGGGTGT GGTACAGTGTGATCTG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	16/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5617433	C C	CCATACCA others(185): Show CCATACCAAACTCTCCAGATCACAGTGTGCCACCTTCTCCAGATTACGTC GTACCGCACTCTCCAGATAACACTGTATCACAACCTCAAGATCACACCGT ACCACACCTTCTGGATCACAGTGTGTCACACTCTCCAGACCACACTGTAC CACACCCTCAAGATCATGATGTACCACACTCTCCAATTCACAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0157 a0001c0016t0002g0157	1	160	0.0063	192	c.181 others(211): Show c.1817-2137_1817-2136insCTGTGAATTGGAGAGTGTGGTACATC ATGATCTTGAGGGTGTGGTACAGTGTGGTCTGGAGAGTGTGACACACTGT GATCCAGAAGGTGTGGTACGGTGTGATCTTGAGGTTGTGATACAGTGTTA TCTGGAGAGTGCGGTACGACGTAATCTGGAGAAGGTGGCACACTGTGATC TGGAGAGTTTGGTATG	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	16/24			chr12	TogoVar
ANO7_chr2_241183677_241230976	241218100	G G	GGGCAGCG others(185): Show GGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGCGCGCAG GGGCGGGGCGGGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAGC GGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGA GCGGGGGCGCGCAGGGGCGGAGCGGGGGCAGCGGGGGCGCGCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00735.hp2 others(21): Show HG00609.hp2 HG00639.hp2 HG00735.hp2 HG01081.hp1 HG01256.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 NA18942.hp2 NA18951.hp1 NA18952.hp1 NA18963.hp2 NA18970.hp2 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA19007.hp2 NA19070.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0008 a0001c0021 a0004c0005 others(3): Show a0001c0008 a0001c0021 a0004c0005 a0004c0032 a0011c0015 a0011c0053	a0001c0008t0004 a0001c0021t0007 a0004c0005t0004 others(5): Show a0001c0008t0004 a0001c0021t0007 a0004c0005t0004 a0004c0005t0007 a0004c0032t0004 a0011c0015t0004 a0011c0015t0007 a0011c0053t0004	a0001c0008t0004g0168 a0001c0008t0004g0269 a0001c0021t0007g0073 others(19): Show a0001c0008t0004g0168 a0001c0008t0004g0269 a0001c0021t0007g0073 a0004c0005t0004g0166 a0004c0005t0004g0180 a0004c0005t0004g0286 a0004c0005t0004g0290 a0004c0005t0004g0316 a0004c0005t0007g0019 a0004c0005t0007g0020 a0004c0005t0007g0130 a0004c0005t0007g0132 a0004c0005t0007g0133 a0004c0005t0007g0137 a0004c0005t0007g0143 a0004c0032t0004g0306 a0011c0015t0004g0187 a0011c0015t0004g0224 a0011c0015t0004g0238 a0011c0015t0004g0240 a0011c0015t0007g0167 a0011c0053t0004g0082	24	380	0.0632	192	c.217 others(209): Show c.2179-137_2179-136insCAGCGGGGGCGCGCAGGGGCGGAGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGCGTAGG GGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGC GGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCAG CGGGGGCGCGCAGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144562509	C C	CACTCCAG others(185): Show CACTCCAGTGGTTTCCATCGGACTCACTCCAGTGGTTTCCATCGGACTCC AGTGGTTTCCATCGGACCCCAGTCGTTTCCATCACACTCCAGTGGTTTCC ATCGGACTCACTCCAGTGGTTTCCATCGGACTCACTCCAGTGGTTTCCAT CACACTCCAGTGGTTTCCATCGGACTCCAGTGGTTTCCATCGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02280.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0007 a0001c0007t0001 a0001c0001t0007 a0001c0007t0001	a0001c0001t0007g0017 a0001c0007t0001g0016 a0001c0001t0007g0017 a0001c0007t0001g0016	2	214	0.0093	192	c.513 others(209): Show c.513-6867_513-6866insCCGATGGAAACCACTGGAGTCCGATGGA AACCACTGGAGTGTGATGGAAACCACTGGAGTGAGTCCGATGGAAACCAC TGGAGTGAGTCCGATGGAAACCACTGGAGTGTGATGGAAACGACTGGGGT CCGATGGAAACCACTGGAGTCCGATGGAAACCACTGGAGTGAGTCCGATG GAAACCACTGGAGT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144612628	T T	TCCAGCCA others(185): Show TCCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTC CAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCA GCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCAGC CAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	244	0.0041	192	c.-81 others(209): Show c.-81-6934_-81-6933insTGTGCAGCGGCGCAGCCGTGGCTCACCT CACTCTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCA CTCTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACT CTGTCGCCCTGGCTGGAGTGCAGCGGCGCAGCCGTGGCTCACCTCACTCT GTCGCCCTGGCTGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP42_chr11_100682288_100998941	100779497	C C	CACACACA others(185): Show CACACACACACATATATACACGTATATATATACGTATACATACGTATATA TACGTATACATACGTATATATACGTATATATATACGTATACATACGTATA TATACGTATATATATACGTATACATACGTATATATACGTATATATATACG TATACATACGTATATATACGTATATATATACGTATACATACGT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0173 a0001c0001t0024g0173	1	283	0.0035	192	c.250 others(209): Show c.250+9060_250+9061insCACACACACATATATACACGTATATATA TACGTATACATACGTATATATACGTATACATACGTATATATACGTATATA TATACGTATACATACGTATATATACGTATATATATACGTATACATACGTA TATATACGTATATATATACGTATACATACGTATATATACGTATATATATA CGTATACATACGTA	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1839301	C C	CGCTGTGG others(185): Show CGCTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTGGTGTGGAAGCTGTCTG GTGTGGGGACAGTCCGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGT GTGGGGACTGTCTGGTGTGGAAGCTGTCCGGTGTGGGGACTGTCTGGTGT GGAAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19000.hp2 NA19007.hp2 others(4): Show NA18959.hp1 NA19000.hp2 NA19007.hp2 NA19057.hp1 NA19081.hp2 NA19086.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0001c0037 a0001c0052 others(3): Show a0001c0018 a0001c0037 a0001c0052 a0001c0115 a0001c0118 a0002c0030	a0001c0018t0025 a0001c0037t0004 a0001c0037t0009 others(4): Show a0001c0018t0025 a0001c0037t0004 a0001c0037t0009 a0001c0052t0045 a0001c0115t0004 a0001c0118t0009 a0002c0030t0003	a0001c0018t0025g0297 a0001c0037t0004g0304 a0001c0037t0009g0305 others(4): Show a0001c0018t0025g0297 a0001c0037t0004g0304 a0001c0037t0009g0305 a0001c0052t0045g0336 a0001c0115t0004g0281 a0001c0118t0009g0290 a0002c0030t0003g0123	7	331	0.0211	192	c.-47 others(209): Show c.-47-4051_-47-4050insCTGTGGAAGCTGTCTGGTGTGGAAGCTG TCTGGTGTGGAAGCTGTCTGGTGTGGGGACAGTCCGGTGTGGGGACTGTC TGGTGTGGGGACTGTCCGGTGTGGGGACTGTCTGGTGTGGAAGCTGTCCG GTGTGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTCTGGT GTGGAAGCTGTCTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840304	G G	GGTGTGGA others(185): Show GGTGTGGAAGCTGTCTGGTGTGGGGTCTGTCTGGTGTGGAAGATGTCTGG TGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGTGGGGACTGTCTGGTG TGGGGACTGTCTGCTGTGGAAGCTGTCTGCTGTGGAAGCTGTCTGGTGTG GGGACTGTCTGGTGTGGAAGCTCTCTGGTGTGGGGACTGTCTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00597.hp1 others(21): Show HG00140.hp1 HG00423.hp2 HG00597.hp1 HG01175.hp1 HG01192.hp1 HG03017.hp1 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18939.hp2 NA18949.hp2 NA18952.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp2 NA19074.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0003 a0001c0004 a0001c0008 others(15): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0015 a0001c0018 a0001c0020 a0001c0021 a0001c0026 a0001c0115 a0001c0118 a0001c0131 a0001c0143 a0002c0027 a0002c0061 a0004c0051 a0004c0136 a0006c0134	a0001c0003t0001 a0001c0004t0004 a0001c0008t0002 others(17): Show a0001c0003t0001 a0001c0004t0004 a0001c0008t0002 a0001c0009t0002 a0001c0009t0004 a0001c0015t0009 a0001c0018t0009 a0001c0018t0025 a0001c0020t0009 a0001c0021t0004 a0001c0026t0009 a0001c0115t0004 a0001c0118t0009 a0001c0131t0004 a0001c0143t0001 a0002c0027t0004 a0002c0061t0025 a0004c0051t0004 a0004c0136t0009 a0006c0134t0004	a0001c0003t0001g0030 a0001c0003t0001g0284 a0001c0004t0004g0296 others(21): Show a0001c0003t0001g0030 a0001c0003t0001g0284 a0001c0004t0004g0296 a0001c0008t0002g0036 a0001c0009t0002g0029 a0001c0009t0004g0303 a0001c0009t0004g0326 a0001c0015t0009g0315 a0001c0018t0009g0287 a0001c0018t0009g0292 a0001c0018t0025g0297 a0001c0020t0009g0288 a0001c0020t0009g0316 a0001c0021t0004g0312 a0001c0026t0009g0289 a0001c0115t0004g0281 a0001c0118t0009g0290 a0001c0131t0004g0293 a0001c0143t0001g0028 a0002c0027t0004g0295 a0002c0061t0025g0286 a0004c0051t0004g0285 a0004c0136t0009g0283 a0006c0134t0004g0313	24	362	0.0663	192	c.-47 others(209): Show c.-47-3043_-47-3042insAAGCTGTCTGGTGTGGGGTCTGTCTGGT GTGGAAGATGTCTGGTGTGGGGACTGTCTGGTGTGGGGACTGTCCGGTGT GGGGACTGTCTGGTGTGGGGACTGTCTGCTGTGGAAGCTGTCTGCTGTGG AAGCTGTCTGGTGTGGGGACTGTCTGGTGTGGAAGCTCTCTGGTGTGGGG ACTGTCTTGTGTGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1852195	C C	CGGGCCCT others(185): Show CGGGCCCTCTAGAACCTCTCCATCATCCTGGAGAGGACCGGGGAGCAGCA CCGTTTCTGTCCTGAGGGCCCTCTAGAACCTCTCCATCATCCTGGAGAGG ACCGGGGAGCAGCACCGTTTCTGTCCTGAGGGCCCTCTAGAACCTCTCCA TCATCCTGGAGAGGACCGGGGAGCAGCACCGTTTCTGTCCTGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02818.hp1 HG01081.hp1 HG02818.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0044 a0001c0007 a0003c0044	a0001c0007t0008 a0003c0044t0002 a0001c0007t0008 a0003c0044t0002	a0001c0007t0008g0362 a0003c0044t0002g0328 a0001c0007t0008g0362 a0003c0044t0002g0328	2	324	0.0062	192	c.38- others(207): Show c.38-5602_38-5411dupGACCGGGGAGCAGCACCGTTTCTGTCCTGA GGGCCCTCTAGAACCTCTCCATCATCCTGGAGAGGACCGGGGAGCAGCAC CGTTTCTGTCCTGAGGGCCCTCTAGAACCTCTCCATCATCCTGGAGAGGA CCGGGGAGCAGCACCGTTTCTGTCCTGAGGGCCCTCTAGAACCTCTCCAT CATCCTGGAGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF1_chr19_41878184_41912452	41893697	A A	AGGGGCTG others(185): Show AGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGGCTGGGGG CCTGAACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCT GGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCTGGGTCTGAGGG AGGAGGGGGCTGGGGGCCTGAACGTCTGGGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0023 a0006c0009t0001g0023	1	144	0.0069	192	c.644 others(207): Show c.644+405_644+406insCCTGGACTCCTGGGTCTGAGGGAGGAAGGG GCTGGGGGCCTGAACGTCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCT GGACGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTGGACGCCTGGG TCTGAGGGAGGAGGGGGCTGGGGGCCTGAACGTCTGGGTCTGAGGGAGGA GGGGGCTGGGGG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARID1B_chr6_156772378_157215779	157147279	G G	GTCCTCAC others(185): Show GTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCC GGCCCTGCCCTCCGGCCCTCACCCCAGCCTCCGACCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTCCGGCC CTGTCCTCCGTCCCCCACCCCAGCCTCCGGCTCTGCCCTCCGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG03041.hp1 others(1): Show HG02572.hp1 HG02922.hp1 HG03041.hp1 HG06807.hp1	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0001 a0001c0002 a0003c0035 others(1): Show a0001c0001 a0001c0002 a0003c0035 a0018c0041	a0001c0001t0005 a0001c0002t0005 a0003c0035t0022 others(1): Show a0001c0001t0005 a0001c0002t0005 a0003c0035t0022 a0018c0041t0005	a0001c0001t0005g0061 a0001c0002t0005g0025 a0003c0035t0022g0043 others(1): Show a0001c0001t0005g0061 a0001c0002t0005g0025 a0003c0035t0022g0043 a0018c0041t0005g0150	4	125	0.0320	192	c.276 others(211): Show c.2762-1345_2762-1344insTCCTCACCCCCGCCTCCGACCCTGCC CGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG CCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCC GTCCCTCACCCCCGCCTCCGGCCCTGTCCTCCGTCCCCCACCCCAGCCTC CGGCTCTGCCCTCCGT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19			chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147279	G G	GTCCTCAC others(185): Show GTCCTCACCCCCGCCTCCGACCCTGCCCGCCTTCCCTCACCCCCGCCTCC GGCCCTGCCCTCCGGCCCTCACCCCAGCCTCTGACCCTGCCCTCCGTCCC CCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCC CTGCCCTCCGTCCCTCACCCCCGCCTCCGGCCCTGTCCTCCGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0007 a0004c0029t0007	a0004c0029t0007g0087 a0004c0029t0007g0087	1	122	0.0082	192	c.276 others(211): Show c.2762-1345_2762-1344insTCCTCACCCCCGCCTCCGACCCTGCC CGCCTTCCCTCACCCCCGCCTCCGGCCCTGCCCTCCGGCCCTCACCCCAG CCTCTGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCC GTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCTCACCCCCGCCTC CGGCCCTGTCCTCCGT	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19			chr6	TogoVar
ARID1B_chr6_156772378_157215779	157147599	T T	TCCCTCAC others(185): Show TCCCTCACCTCCGCCTCCGGCCCTGCCCGCCGTCCCCCACCCCCGCCTCC GACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCC CCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCTCCGGCC CTGCCCTCCGTCCCCCACCCCCGCCTCCGGCCCTGCCCGCCAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG01346.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0107 a0001c0001t0001g0067 a0001c0001t0001g0107	2	135	0.0148	192	c.276 others(211): Show c.2762-1022_2762-1021insTCACCTCCGCCTCCGGCCCTGCCCGC CGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTCCCCCACCCCCGCCT CCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGACCCTGCCCTCCGTC CCCCACCCCCGCCTCCGGCCCTGCCCTCCGTCCCCCACCCCCGCCTCCGG CCCTGCCCGCCAGCCC	ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(185): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTCCCCCTCCCTCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCCCCTCCCTCCCCCTCCCCCTCCCCC TCCCCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	72	0.0139	192	c.102 others(209): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTCCCCCTCCCTCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCT CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ASMTL_chrX_1398139_1457909	1453908	T T	TGGAGATG others(185): Show TGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATCGGGG GTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGC CTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGG GCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	180	0.0056	192	c.-10 others(203): Show c.-1069_-1068insCACGCCCCTCCCACCAGGCCCGTGGACACCCCCA TCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCC TCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCC CGTGGACACCCCCGATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCC CCATCTCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		1000		chrX	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(185): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18906.hp1 HG01109.hp1 NA18906.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0014 a0002c0005t0006g0014	2	93	0.0215	192	c.960 others(209): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTC CCCTCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(185): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACTATATATGTTGTATATACGTATATACAACATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG03225.hp2 others(2): Show HG02559.hp2 HG02572.hp1 HG03225.hp2 NA18522.hp1 NA19240.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0013 a0003c0007t0015 a0003c0007t0013 a0003c0007t0015	a0003c0007t0013g0189 a0003c0007t0013g0197 a0003c0007t0013g0222 others(2): Show a0003c0007t0013g0189 a0003c0007t0013g0197 a0003c0007t0013g0222 a0003c0007t0015g0209 a0003c0007t0015g0215	5	102	0.0490	192	c.676 others(209): Show c.676-4666_676-4665insATTTATGTTGTATATACGTATATACAAC ATATATAGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112705321	G G	GAGAGGGA others(185): Show GAGAGGGAAACCCTGGGATTCTCGTAGGGGAGGGTGTGTGATGTCCTCAG CACGCGGGGGTGCTCAGAGGGAAACCCTGGGATTCTCGTAGGGGAGGGTG TGTGATGTCCTCAGCACGCGGGGGTGCTCAGAGGGAAACCCTGGGATTCT CGTAGGGGAGGGTGTGTGATGTCCTCAGCACGCGGGGGTGCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02647.hp2 others(8): Show HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0001c0022 a0001c0029	a0001c0001t0002 a0001c0004t0003 a0001c0004t0044 others(4): Show a0001c0001t0002 a0001c0004t0003 a0001c0004t0044 a0001c0006t0004 a0001c0009t0003 a0001c0022t0001 a0001c0029t0053	a0001c0001t0002g0050 a0001c0004t0003g0034 a0001c0004t0003g0049 others(8): Show a0001c0001t0002g0050 a0001c0004t0003g0034 a0001c0004t0003g0049 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0044g0057 a0001c0006t0004g0036 a0001c0006t0004g0115 a0001c0009t0003g0218 a0001c0022t0001g0217 a0001c0029t0053g0046	11	244	0.0451	192	c.39+ others(209): Show c.39+14932_39+14933insAGGGAAACCCTGGGATTCTCGTAGGGGA GGGTGTGTGATGTCCTCAGCACGCGGGGGTGCTCAGAGGGAAACCCTGGG ATTCTCGTAGGGGAGGGTGTGTGATGTCCTCAGCACGCGGGGGTGCTCAG AGGGAAACCCTGGGATTCTCGTAGGGGAGGGTGTGTGATGTCCTCAGCAC GCGGGGGTGCTCAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787395	C C	CGGGTGTC others(185): Show CGGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATTCACACCA AGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGT GTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGGTGT CCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp2 HG02572.hp2 HG03098.hp2	a0001 a0001	a0001c0019 a0001c0042 a0001c0019 a0001c0042	a0001c0019t0015 a0001c0042t0046 a0001c0019t0015 a0001c0042t0046	a0001c0019t0015g0147 a0001c0042t0046g0148 a0001c0019t0015g0147 a0001c0042t0046g0148	2	209	0.0096	192	c.162 others(209): Show c.162+2138_162+2139insGGGTGTCCTGATGCGTAGACCCCTGTGG AGACCTACTTAATTCACACCAAGTGTCCTGATGCGTAGACCCCTGTGGAG ACCTACTTAATCCACACCGGTGTCCTGATGCGTAGACCCCTGTGGAGACC TACTTAATCCACACCGGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTA CTTAATCCACACCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112787395	C C	CGGGTGTC others(185): Show CGGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATTCACACCA AGTGTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCGGT GTCCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCTGGTGT CCTGATGCGTAGACCCCTGTGGAGACCTACTTAATCCACACCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp1 HG02809.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0046 a0001c0002 a0001c0046	a0001c0002t0014 a0001c0046t0016 a0001c0002t0014 a0001c0046t0016	a0001c0002t0014g0197 a0001c0046t0016g0062 a0001c0002t0014g0197 a0001c0046t0016g0062	2	209	0.0096	192	c.162 others(209): Show c.162+2138_162+2139insGGGTGTCCTGATGCGTAGACCCCTGTGG AGACCTACTTAATTCACACCAAGTGTCCTGATGCGTAGACCCCTGTGGAG ACCTACTTAATCCACACCGGTGTCCTGATGCGTAGACCCCTGTGGAGACC TACTTAATCCACACCTGGTGTCCTGATGCGTAGACCCCTGTGGAGACCTA CTTAATCCACACCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840096	A A	ACTCCCGT others(185): Show ACTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCATCCCCCCCAGC CTCAGCCTCCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTC CCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCATCCCCCCCAGCCTCA GCCTCCCCACTCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0009 a0009	a0009c0038 a0009c0038	a0009c0038t0071 a0009c0038t0071	a0009c0038t0071g0044 a0009c0038t0071g0044	1	250	0.0040	192	c.170 others(211): Show c.1706-2143_1706-2142insATCCCCCCCAGCCTCAGCCTCCCCAC TCTCCCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCGTCCAGC CTCAGCCTCCCCACTCTCCCATCCCCCCCAGCCTCAGCCTCCCCACTCTC CCGTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCA GCCTCCCCACTCTCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840358	G G	GTGCCCTC others(185): Show GTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGC CTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGC CCTCCAGACTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCC CCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	157	0.0064	192	c.170 others(211): Show c.1706-1914_1706-1913insCTCCAGCCTCAGCCTCCCCACTCTCC CGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAG CCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCGTG CCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTC CCCACTCTCCCATGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112840358	G G	GTGCCGTC others(185): Show GTGCCGTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAGC CTCCCCACTCTCCCGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGC CCTCCAGACTCAGCCTCCCCACTCTCCCATGCCCTCCAGCCTCAGCCTCC CCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 NA19240.hp1 HG01109.hp1 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0013 a0001c0002t0001 a0001c0002t0013	a0001c0002t0001g0032 a0001c0002t0013g0112 a0001c0002t0013g0211 a0001c0002t0001g0032 a0001c0002t0013g0112 a0001c0002t0013g0211	3	159	0.0189	192	c.170 others(211): Show c.1706-1914_1706-1913insGTCCAGCCTCAGCCTCCCCACTCTCC CGTGCCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGCCTCAG CCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTCCCCACTCTCCCATG CCCTCCAGCCTCAGCCTCCCCACTCTCCCGTGCCCTCCAGACTCAGCCTC CCCACTCTCCCATGCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	16/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(185): Show TTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTT CTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0017 a0001c0011t0017	a0001c0011t0017g0121 a0001c0011t0017g0121	1	62	0.0161	192	c.77- others(207): Show c.77-3238_77-3237insTTTCTTTCTTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTT TCTCTCTTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79146136	T T	TGGCGGTG others(185): Show TGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTG GCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGGGAGCTGGC GGTGTGCACAGTGACTGAAGGTGCAAGCTGCATGTCGGGGGAGCTGGCGG TGTGCAGAGTGACTGAAGGTGCACGCTGCATGTCGGGGGAGCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02293.hp2 HG03540.hp2 HG02109.hp1 HG02293.hp2 HG03540.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290 a0001c0006t0007g0287 a0001c0006t0007g0288 a0001c0006t0007g0290	3	296	0.0101	192	c.726 others(209): Show c.726+2383_726+2384insCAGTGACTGAAGGTGCAAGCTGCATGTC GGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCACGCTGCATGTCGG GGGAGCCGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGG GAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGCTGCATGTCGGGGGA GCTGGCGGTGTGCA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN7L1_chr7_105599772_105881599	105733681	C C	CCCATCCA others(185): Show CCCATCCATCCATTCATCCATCCACCCATCCATCCATCCACCCATCCATC CACCCAACCACCCATCCATCCACCCCTCCATCCGTCCATCCATCCACCCA TCCATCCATCCACCCATCCACCCATTCATCCATCCACCCATCCATCCATC CATCCATCCATCCATTCATCCATCCACCCATCCATCCATTCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02148.hp1 NA20129.hp2 HG00673.hp1 HG02148.hp1 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0001c0001t0020 a0005c0011t0001 a0001c0001t0001 a0001c0001t0020 a0005c0011t0001	a0001c0001t0001g0144 a0001c0001t0020g0077 a0005c0011t0001g0092 a0001c0001t0001g0144 a0001c0001t0020g0077 a0005c0011t0001g0092	3	5	0.6000	192	c.355 others(211): Show c.355+54922_355+54923insATGAATGGATGGATGGGTGGATGGAT GAATGGATGGATGGATGGATGGATGGATGGGTGGATGGATGAATGGGTGG ATGGGTGGATGGATGGATGGGTGGATGGATGGACGGATGGAGGGGTGGAT GGATGGGTGGTTGGGTGGATGGATGGGTGGATGGATGGATGGGTGGATGG ATGAATGGATGGATGG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82970656	C C	CGACCTCC others(185): Show CGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACACAGCGTGGCCGCG ACCTCCGCACACAGCGTGGCCGTGACCTCCGCACCCGGTGTGGCCGTGAC CTCCGCACATGGTGTGGCCGTGACCTCCGCACATGGTGTGGCCGTGACCT CCCCACCCGGTGTGGCCGTGACCTCTGCACACAGCGTGGCCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG01891.hp1 HG02559.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0007 a0002c0005t0003 a0002c0005t0007	a0002c0005t0003g0056 a0002c0005t0007g0260 a0002c0005t0003g0056 a0002c0005t0007g0260	2	155	0.0129	192	c.460 others(209): Show c.460-4911_460-4910insATGGCCACGCTGTGTGCAGAGGTCACGG CCACACCGGGTGGGGAGGTCACGGCCACACCATGTGCGGAGGTCACGGCC ACACCATGTGCGGAGGTCACGGCCACACCGGGTGCGGAGGTCACGGCCAC GCTGTGTGCGGAGGTCGCGGCCACGCTGTGTGCGGAGGTCGCGGCCACGC TGGGTGGGGAGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(185): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	144	0.0069	192	c.784 others(207): Show c.784-521_784-520insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(185): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGG GGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGG GGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp2 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0192 a0001c0001t0004g0193	2	3	0.6667	192	c.51+ others(205): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCC CCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCC CTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	C C	CTTCTGCT others(185): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC TGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTG CTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01261.hp1 others(27): Show HG00280.hp1 HG01123.hp1 HG01261.hp1 HG02055.hp2 HG02129.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 NA18612.hp1 NA18939.hp2 NA18944.hp1 NA18959.hp2 NA18982.hp2 NA18986.hp1 NA19000.hp2 NA19043.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0028 a0001c0001t0033 a0001c0003t0001 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0188 others(27): Show a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0188 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0363 a0001c0001t0003g0141 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0288 a0001c0001t0004g0082 a0001c0001t0004g0193 a0001c0001t0007g0366 a0001c0001t0012g0370 a0001c0001t0016g0337 a0001c0001t0028g0027 a0001c0001t0033g0014 a0001c0003t0001g0219 a0001c0003t0001g0265 a0001c0003t0003g0235 a0001c0003t0003g0256 a0002c0002t0002g0120 a0002c0002t0002g0151 a0002c0002t0002g0157 a0002c0002t0002g0183 a0002c0002t0002g0306	30	89	0.3371	192	c.131 others(207): Show c.131-939_131-938insGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCT GCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGC TGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTG TTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANP_chr16_87946434_88082316	88000593	C C	CGTCTCCA others(185): Show CGTCTCCATGCCCGCACGTGCGCGGCTGTACTTACCAGGCCTTCCAGACA CGTCTCCATGCACGCACGTGCGCGGCTGTACTCACCTGTCCTTCCAGACA CGTCTCCATGCACGCACTTGCACGGCTGTACTTACCAGGCCTTCCAGACA CGTCTCCATGCACGCACGTGTGCGGCTGTACTCACCTGTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0162 a0001c0031t0001g0162	1	350	0.0029	192	c.363 others(209): Show c.363-3702_363-3701insGTCTCCATGCCCGCACGTGCGCGGCTGT ACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGT ACTCACCTGTCCTTCCAGACACGTCTCCATGCACGCACTTGCACGGCTGT ACTTACCAGGCCTTCCAGACACGTCTCCATGCACGCACGTGTGCGGCTGT ACTCACCTGTCCTT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13			chr16	TogoVar
BCHE_chr3_165767904_165842423	165797311	T T	TCCTTCCT others(185): Show TCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCT TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCT CCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp2 HG03669.hp2 others(1): Show HG01192.hp1 HG01256.hp2 HG03669.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0168 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0189	4	198	0.0202	192	c.151 others(213): Show c.1518-11001_1518-11000insGGGGAGGGAGGGAGGAAGGAGGAA GGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGA GGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGA GGGAGGGAAGAAGGAAGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(185): Show ATATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAT ATACCCATGGGTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	328	0.0030	192	c.-81 others(211): Show c.-81-13410_-81-13409insTACCCATGGGTATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATACC CATGGGTATATATATATATATATATATATACCCATGGGTATATATATATA TATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRD1_chr22_49768283_49832873	49802372	C C	GGAGACCA others(185): Show GGAGACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGA GACCAATGCCTCCACTCTCTTCCTTTCCCCAACATCGCGGGGGCCGAGAC CAATGCCTCCACTCTCTTCCATTCCCCAACATCGCGGGGGCCGAGACCAA TGCCTCCACTCTCTTCCTTCTCCCCACGAACATCGCGGGGGCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0221 a0002c0003t0003g0221	1	234	0.0043	192	c.152 others(211): Show c.1524+1832_1524+1833insGCCCCCGCGATGTTCGTGGGGAGAAG GAAGAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAATGGAA GAGAGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAG AGTGGAGGCATTGGTCTCGGCCCCCGCGATGTTGGGGAAAGGAAGAGAGT GGAGGCATTGGTCTCC	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	3/12			chr22	TogoVar
BRSK2_chr11_1384934_1467689	1423659	C C	CTGCCCCA others(185): Show CTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCC GCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0286 a0002c0005t0005g0286	1	288	0.0035	192	c.92- others(209): Show c.92-12374_92-12373insGGCCTCCCCCGCTGGGCGTTCCGGGTGC CCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTG GGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCA GGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCA	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1423667	A A	AGCCTCCC others(185): Show AGCCTCCCCCGCTGGGCATTCCGGGTGCCCCAAGCCTCCCCCGCTGGGCG TTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCC TCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCC GGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 HG01123.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0188 a0001c0001t0001g0190	2	226	0.0088	192	c.92- others(209): Show c.92-12357_92-12356insATTCCGGGTGCCCCAAGCCTCCCCCGCT GGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCC AGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGC GTTCCGGGTGCCCCAGGCCTCCCCCGCTGGGCGTTCCGGGTGCCCCAGGC CTCCCCCGCTGGGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1432505	T T	TCAGCAGT others(185): Show TCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	242	0.0041	192	c.92- others(207): Show c.92-3489_92-3488insTCAGCAGTGAGCGTCTTCTGCGGGGTCTGG TCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGT CAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSG_chr19_567596_588493	585322	A A	ACCCCGTC others(185): Show ACCCCGTCGGTGGGTGCCCAGCGCGGAGGGGTGCGGAGGTGGATGTCCGC CCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCC CGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCG TCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0003 a0001c0003t0006g0003	1	275	0.0036	192	c.25 others(203): Show c.2578_*2579insCCCCGTCGGTGGGTGCCCAGCGCGGAGGGGTGCG GAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGA GGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGG TGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTG GATGTCCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1830		chr19	TogoVar
BSG_chr19_567596_588493	585441	C C	CGGAGGGG others(185): Show CGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCG GAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGA GGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCCGGCGCGGAGG GGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTGCCTGGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	289	0.0035	192	c.26 others(203): Show c.2697_*2698insGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGG TGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTG GGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGG TGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCGCCCCGTCGGTGGGTG CCTGGCGT	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1949		chr19	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(185): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	170	0.0059	192	c.431 others(209): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565175	T T	TTATGTAA others(185): Show TTATGTAATATAATATTATATTACATATTATGTAATATAAATATTATATT ACATAATATGTAATATAATATTATATTACATAATATGTAATATAATATTA TATTACATAATATGTAATATAATATTATATTACATAATATGTAATATAAT ATTTATATTACATATTATGTAATATAATATTTATATTACATAA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	133	0.0075	192	c.314 others(211): Show c.314-51237_314-51236insTTATGTAATATAAATATTATATTACA TAATATGTAATATAAATATTATATTACATATTATGTAATATAATATTATA TTACATATTATGTAATATAATATTATATTACATATTATGTAATATAATAT TATATTACATATTATGTAATATAATATTTATATTACATAATATGTAATAT AATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565175	T T	TTATGTAA others(185): Show TTATGTAATATAATATTATATTACATATTATGTAATATAATATTATATTA CATATTATGTAATATAAATATTATATTACATAATATGTAATATAATATTA TATTACATAATATGTAATATAATATTATATTACATAATATGTAATATAAT ATTTATATTACATATTATGTAATATAATATTTATATTACATAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18965.hp2 NA18963.hp1 NA18965.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0010 a0004c0005t0002 a0001c0001t0010 a0004c0005t0002	a0001c0001t0010g0001 a0004c0005t0002g0129 a0001c0001t0010g0001 a0004c0005t0002g0129	2	134	0.0149	192	c.314 others(211): Show c.314-51237_314-51236insTTATGTAATATAAATATTATATTACA TAATATGTAATATAAATATTATATTACATATTATGTAATATAATATTATA TTACATATTATGTAATATAATATTATATTACATATTATGTAATATAATAT TTATATTACATAATATGTAATATAATATTATATTACATAATATGTAATAT AATATTATATTACATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126565249	A A	ATATTACA others(185): Show ATATTACATAATATGTAATATAATATTTATATTACATAATATGTAATATA ATATTATATTACATAATATGTAATATAATATTTATATTACATATTATGTA ATATAATATTTATATTACATAATATGTAATATAATATTTATATTACATAT TATGTAATATAATATTTATATTACATATTATGTAATATAATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0024 a0001c0001 a0004c0024	a0001c0001t0001 a0004c0024t0005 a0001c0001t0001 a0004c0024t0005	a0001c0001t0001g0150 a0004c0024t0005g0003 a0001c0001t0001g0150 a0004c0024t0005g0003	2	209	0.0096	192	c.314 others(211): Show c.314-51311_314-51310insATATTATATTACATAATATGTAATAT AAATATTATATTACATAATATGTAATATAAATATTATATTACATATTATG TAATATAAATATTATATTACATAATATGTAATATAAATATTATATTACAT ATTATGTAATATAATATTATATTACATATTATGTAATATAAATATTATAT TACATATTATGTAATA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1orf159_chr1_1076823_1121089	1080649	A A	ACCCCCAC others(185): Show ACCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCT GTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCC CCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCT CCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	163	0.0061	192	c.22 others(203): Show c.2243_*2244insCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCG GAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGA CCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGAGGTGGGGGCGGAGG GAAGGAGACAGGGACCGAGGTGGGGGCGGAGGGAAGGAGACAGGGACCGA GGTGGGGG	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1173		chr1	TogoVar

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