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
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(213): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CACCAACACACACCACACCCACACCACATAAACCACACCCACACCCAACA CACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG02257.hp1 HG03516.hp1 HG01169.hp1 HG02257.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0011g0115 a0001c0001t0004g0152 a0001c0001t0004g0154 a0001c0001t0011g0115	3	244	0.0123	220	c.25 others(231): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGTGTT GGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTGTG TGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGT GGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
ELL_chr19_18437663_18527070	18442165	A A	ACCACACA others(213): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CCAACACACACCACACCCACACCACACATAAACCACACCCACACCCAACA CACATACCACATCCACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	244	0.0041	220	c.25 others(231): Show c.2586_*2587insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGGTGTGTGTT GGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTGTG TGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGT GGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		497		chr19	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(213): Show GATAGATATCTATATATATATAGATATCTATATAGATAGATATCTATATA TATAGATATCTATATAGATAGATATCTATATATCTATAGATATCTATATA GATAGATATCTATATATAGATATCTATATAGATAGATATCTATATATCTA TAGATATCTATATAGATAGATATCTATAGATATATAGATAGATATCTATA TATCTATAGATATCTATCTAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0160 a0001c0002t0006g0160	1	188	0.0053	220	c.-21 others(241): Show c.-219+51375_-219+51376insATAGATAGATATCTATAGATATAT AGATATCTATCTATATATCTATAGATATCTATCTATATAGATATCTATAG ATATATAGATATCTATCTATATAGATATCTATATATAGATATCTATCTAT ATAGATATCTATAGATATATAGATATCTATCTATATAGATATCTATATAT ATAGATATCTATCTATATAGATATCTATATATATATAGATATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
EVA1C_chr21_32407706_32520387	32477799	C C	CACCTCCC others(213): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCCCGTACGCCCTCACCTCCCCCGTACGCCC TCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTC CCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTA CGCCCTCCCCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	346	0.0029	220	c.634 others(237): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCCGTACGC CCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCC TCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGC CCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477799	C C	CACCTCCC others(213): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCT CCCCTCCCCTCCCCCGTACGCCCCTCCCCTCCCCCGTACGCCCTCCCCTC CCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTA CGCCCTCCCCTCCCCCGTACG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0100 a0001c0013t0001g0100	1	346	0.0029	220	c.634 others(237): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCCTCCCC TCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGC CCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
EXD3_chr9_137301896_137428162	137329456	T T	TACACAGG others(213): Show TACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAC TACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01256.hp1 HG01258.hp1 others(1): Show HG01069.hp1 HG01256.hp1 HG01258.hp1 HG03688.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0021 a0001c0001 a0005c0021	a0001c0001t0001 a0005c0021t0001 a0001c0001t0001 a0005c0021t0001	a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0051 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0051 a0005c0021t0001g0069	4	82	0.0488	220	c.199 others(239): Show c.1999-5314_1999-5313insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC2_chr6_480154_698139	675650	A A	ACTGCGGT others(213): Show ACTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGACAGGTTCCTCTG GAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAAGGATAGGTTC CTCTGGTGACTCTGCGGTTCCCCATACTCTTCAGCATTACGGAAAGGACA GGTTCCTCGGGAGACTCTGCGGTTCCCCATACTCTTCAACATTACGGAAA GGACAGGTTCCTCTGGTGACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02886.hp2 HG01884.hp1 HG02109.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0011 a0002c0005t0011 a0001c0001t0011 a0002c0005t0011	a0001c0001t0011g0267 a0001c0001t0011g0268 a0002c0005t0011g0266 a0001c0001t0011g0267 a0001c0001t0011g0268 a0002c0005t0011g0266	3	272	0.0110	220	c.-44 others(239): Show c.-44+17368_-44+17369insAGTCACCAGAGGAACCTGTCCTTTCC GTAATGTTGAAGAGTATGGGGAACCGCAGAGTCTCCCGAGGAACCTGTCC TTTCCGTAATGCTGAAGAGTATGGGGAACCGCAGAGTCACCAGAGGAACC TATCCTTTCCGTAATGTTGAAGAGTATGGGGAACCGCAGAGTCTCCAGAG GAACCTGTCCTTTCCGTAATGTTGAAGAGTATGGGGAACCGCAG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
FAM13A_chr4_88720960_89062185	89042101	C C	CAAGGTGA others(213): Show CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02895.hp1 others(2): Show HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0007 a0001c0001 a0002c0004 a0002c0007	a0001c0001t0001 a0002c0004t0023 a0002c0007t0008 others(1): Show a0001c0001t0001 a0002c0004t0023 a0002c0007t0008 a0002c0007t0010	a0001c0001t0001g0003 a0002c0004t0023g0012 a0002c0007t0008g0011 others(2): Show a0001c0001t0001g0003 a0002c0004t0023g0012 a0002c0007t0008g0011 a0002c0007t0010g0009 a0002c0007t0010g0010	5	208	0.0240	220	c.28- others(237): Show c.28-12453_28-12452insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	1/23			chr4	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(213): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCC GCCCCTCCCCGCTCCCCCACTCTGCCCCTCCCCGCCCCCCCCGCCCCTCC CCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTT CCCCTTCTGCCCCTCCCCGCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCA TCCCTTCCCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0041 a0001c0004t0041	a0001c0004t0041g0185 a0001c0004t0041g0185	1	218	0.0046	220	c.-23 others(239): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCC TCCCCGCCCCCCCCGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTT CCCCCTCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCCGCT CCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCTCCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TCATATAT others(213): Show TCATATATATCATATATATCATATATCATATATCAATCATATATATCATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATATATCATATATATCATATATATCATATATCATATATCAATCATA TATATTATATATCATATATATTATATATCATATATATCATATATCATATA TATCATATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0028 a0001c0008t0028	a0001c0008t0028g0113 a0001c0008t0028g0113	1	236	0.0042	220	c.-22 others(231): Show c.-2234_-2233insTGATATATGATATATATGATATATATGATATATG ATATATATGATATATAATATATATGATATATAATATATATGATTGATATA TGATATATGATATATATGATATATATGATATATGATATATGATATATATG ATATATATGATATATGATATATATGATATATATGATATATGATATATATG ATTGATATATGATATATGATATATATGATATATATG	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FER1L5_chr2_96637764_96709883	96659355	T T	TTCTTTCT others(213): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CCTTTCTTTCTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0151 a0002c0001t0001g0151	1	226	0.0044	220	c.748 others(235): Show c.748-984_748-983insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCCTTTCTTTCTTCTTTCTTTCTTTCTTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTC	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FHIT_chr3_59742277_61256452	60860339	G G	GATACATC others(213): Show GATACATCATATGTATACATGACATACATCATATGTATACATGACATACA TCATATGTATACATGACATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	46	0.0217	220	c.-11 others(241): Show c.-110-38329_-110-38328insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGT ATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60860339	G G	GATACATC others(213): Show GATACATCATATGTATACATGAGATACATCATATGTATACATGAGATACA TCATATGTATACATGAGATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0041 a0001c0002t0006g0041	1	46	0.0217	220	c.-11 others(241): Show c.-110-38329_-110-38328insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATGTCATGTATACATATGATGTATCTCATGTATACATATGATGT ATCTCATGTATACATATGATGTATCTCATGTATACATATGATGTAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60860339	G G	GATACATC others(213): Show GATACATCATATGTATACATGAGATACATCATATGTATACATGAGATACA TCATATGTATACATGAGATACATCATATGTATACATGAGATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02280.hp1 HG01981.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0005 a0001c0001t0004g0043 a0001c0001t0003g0005 a0001c0001t0004g0043	2	46	0.0435	220	c.-11 others(241): Show c.-110-38329_-110-38328insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATCTCATGTATACATATGATGTATCTCATGTATACATATGATGT ATCTCATGTATACATATGATGTATCTCATGTATACATATGATGTAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FIGNL2_chr12_51812899_51853718	51834086	C C	CGGATGGG others(213): Show CGGATGGGTGGATGGTTGGATGGATGGATGGATGAATGGACAGATGGACA GATGGACAGATGGATGAATAGACAGACGGATGGGTGGATGGATGGATGGA TGGATGGATGAATGGACAGATGGACAGATGGACAGATGGATGAATAGACA GACGGATGGGTGGATGGATGGATGGATGGATGGATGAATGGACAGATGGA CAGATGGACAGATGGATGAAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03927.hp2 HG03491.hp1 HG03492.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0290 a0001c0003t0001g0038 a0001c0003t0001g0290	3	408	0.0074	220	c.-11 others(239): Show c.-11-11663_-11-11662insATTCATCCATCTGTCCATCTGTCCAT CTGTCCATTCATCCATCCATCCATCCATCCATCCACCCATCCGTCTGTCT ATTCATCCATCTGTCCATCTGTCCATCTGTCCATTCATCCATCCATCCAT CCATCCATCCACCCATCCGTCTGTCTATTCATCCATCTGTCCATCTGTCC ATCTGTCCATTCATCCATCCATCCATCCAACCATCCACCCATCC	FIGNL2	ENSG00000261308.4	transcript	ENST00000618634.3	protein_coding	1/1			chr12	TogoVar
FRMPD4_chrX_12133473_12729523	12331912	A A	ATTATATA others(213): Show ATTATATATATTTATATACTATATATAAATTATATAATTTATATACTATA TATAAATTATATATATTTATATACTATATATAAATATATATATTTATATA CTATATATAAATTATATAATTTATATACTATATATAAATATATATATTTA TATACTATATATAAATATATATATTTATATACTATATATAAATTATATAT ATTTATATACTATATATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03579.hp1 HG02647.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0002 a0002c0005t0004 a0001c0001t0002 a0002c0005t0004	a0001c0001t0002g0064 a0002c0005t0004g0001 a0001c0001t0002g0064 a0002c0005t0004g0001	2	174	0.0115	220	c.42- others(239): Show c.42-166767_42-166766insTATATATATTTATATACTATATATAA ATTATATAATTTATATACTATATATAAATTATATATATTTATATACTATA TATAAATATATATATTTATATACTATATATAAATTATATAATTTATATAC TATATATAAATATATATATTTATATACTATATATAAATATATATATTTAT ATACTATATATAAATTATATATATTTATATACTATATATAAATT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182653	C C	CATATAGT others(213): Show CATATAGTGTATATAGTATATATACACTATATATACACTATATATGTATA GTATATATACACTATATATAGTATATATACACTATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATAGTATATATACACTATATA TATAGTATATATACACTATATATATAGTATATATACACTATATATATAGT GTATATATACACTGTATATGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	204	0.0049	220	c.114 others(239): Show c.1143+7076_1143+7077insACATATACAGTGTATATATACACTAT ATATATAGTGTATATATACTATATATATAGTGTATATATACTATATATAT AGTGTATATATACTATATATAGTGTATATATACTATATATATAGTGTATA TATACTATATATAGTGTATATATACTATATATAGTGTATATATACTATAC ATATATAGTGTATATATAGTGTATATATACTATATACACTATAT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182653	C C	CATATAGT others(213): Show CATATAGTGTATATAGTATATATACACTATATATACACTATATATGTATA GTATATATACACTATATATAGTATATATACACTATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATAGTATATATACACTATATA TATAGTATATATACACTATATATATAGTATATATACACTGTATATATAGT GTATATATACACTGTATATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	204	0.0049	220	c.114 others(239): Show c.1143+7076_1143+7077insACATATACAGTGTATATATACACTAT ATATACAGTGTATATATACTATATATATAGTGTATATATACTATATATAT AGTGTATATATACTATATATAGTGTATATATACTATATATATAGTGTATA TATACTATATATAGTGTATATATACTATATATAGTGTATATATACTATAC ATATATAGTGTATATATAGTGTATATATACTATATACACTATAT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152275216	A A	ATATATAT others(213): Show ATATATATAATTTATATATATTTAATATTATATATATAATTTATATTTAA TATTATATATATAATTTATATATATTTAATATTATATATATAATTTATAT ATATTTAATATTATATATATAATTTATATTTAATATTATATATATAATTT ATATATATTTAATATTATATATATAATTTATATATATTTAATATTATATA TATAATTTATATATATAATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0003g0129 a0001c0001t0001g0123 a0001c0001t0003g0129	2	204	0.0098	220	c.330 others(237): Show c.330+9451_330+9452insATATTATATATATAAATTATATATATAA TATTAAATATATATAAATTATATATATAATATTAAATATATATAAATTAT ATATATAATATTAAATATAAATTATATATATAATATTAAATATATATAAA TTATATATATAATATTAAATATATATAAATTATATATATAATATTAAATA TAAATTATATATATAATATTAAATATATATAAATTATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GALNT8_chr12_4715400_4777726	4734671	T T	TTAAAATG others(213): Show TTAAAATGTTAATTTGGTTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01070.hp1 others(1): Show HG00642.hp2 HG00735.hp2 HG01070.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 others(1): Show a0001c0001t0001g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0291	4	338	0.0118	220	c.510 others(237): Show c.510-4475_510-4474insTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAATAAATAAATAAAATGTTAATTTGGT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4734671	T T	TTAAAATG others(213): Show TTAAAATGTTAATTTGGTTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02109.hp2 others(2): Show HG01516.hp1 HG01517.hp1 HG02109.hp2 HG02145.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0027 others(1): Show a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0027 a0001c0001t0002g0281	5	338	0.0148	220	c.510 others(237): Show c.510-4475_510-4474insTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATAAATAAATAAATAAAATGTTAATTTGGT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4734671	T T	TTAAAATG others(213): Show TTAAAATGTTAATTTGGTTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	338	0.0030	220	c.510 others(237): Show c.510-4475_510-4474insTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATAAAATAAATAAATAAAATGTTAATTTGGT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNT8_chr12_4715400_4777726	4734671	T T	TTAAAATG others(213): Show TTAAAATGTTAATTTGGTTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0028 a0009c0009t0002g0028	1	338	0.0030	220	c.510 others(237): Show c.510-4475_510-4474insTAGCCGGGCGCGGTGGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAATAAATAAATAAATAAATAAATAAAATGTTAATTTGGT	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
GAS6_chr13_113815549_113869076	113841469	C C	CCAGTTTC others(213): Show CCAGTTTCCTCCATATGCCTCAATTTCCTCCGTACGCCCCACAGTTTCCT CCATATGCCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCGTACGCCC CACAGTTTCCTCCATATGCCCCAGTTTCCTCCATACGCCCCGGTTTCCTC CATACACCCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCATATGCC CAGTTTCCTCCATACACCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	143	0.0070	220	c.344 others(237): Show c.344-1620_344-1619insTGGGGTGTATGGAGGAAACTGGGCATAT GGAGGAAACTGTGGGGCGTATGGAGGAAACTGTGGGGTGTATGGAGGAAA CCGGGGCGTATGGAGGAAACTGGGGCATATGGAGGAAACTGTGGGGCGTA CGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCATATGGAGGAAAC TGTGGGGCGTACGGAGGAAATTGAGGCATATGGAGGAAACTG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GPR157_chr1_9095305_9134102	9116182	A A	ATATATAA others(213): Show ATATATAATATAATTATATATATTTATATTATATATATTATATATAATTA TATATAATATATTATATATTATATGTAATATAAATATATATAATTATATT ATATATATTATATGTAATATAATTATATATATTTATATTATATATTATAT ATAATATAATTATATATATAATTATAATATATTATATATAATATAATTAT ATATATAATTATAATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0014 a0003c0012t0014	a0003c0012t0014g0329 a0003c0012t0014g0329	1	404	0.0025	220	c.384 others(237): Show c.384-4694_384-4693insATATATATTATAATTATATATATAATTA TATTATATATAATATATTATAATTATATATATAATTATATTATATATAAT ATATAATATAAATATATATAATTATATTACATATAATATATATAATATAA TTATATATATTTATATTACATATAATATATAATATATTATATATAATTAT ATATAATATATATAATATAAATATATATAATTATATTATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATT others(213): Show ATTATATTATATATAATTATATATAATTATATTATATATTATATGTAATA TAAATATATATAATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATATAATTATATATATAATTATAATAT ATATTATATATAATATAATTATATATATAATTATATTATATATAATATAA TTATATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19006.hp2 NA19005.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0248 a0001c0001t0001g0251	2	404	0.0050	220	c.384 others(237): Show c.384-4804_384-4803insATATATATATTATATATATAATTATATT ATATATAATATAATTATATATATAATTATATTATATATAATATATATTAT AATTATATATATAATTATATTATATATAATATATAATATAAATATATATA ATTATATTACATATAATATATATAATATAATTATATATATTTATATTACA TATAATATATAATATAATTATATATAATTATATATAATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR161_chr1_168074542_168141930	168119275	T T	TATACATA others(213): Show TATACATATATATACATATATATGTATATATATGTATATATATACATATA TATACATATATATACGTATATATATATACATATATATATACATATATATA TACACATATATATGTATACATATATATATACATATATATGTATACATATA TATATACACATATATATATACATATATATACATATATATGTGTACATATA TGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0324 a0001c0002t0010g0324	1	340	0.0029	220	c.-44 others(239): Show c.-44-14382_-44-14381insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATGTATATATATATGTGTATATATATAT GTATACATATATATGTATATATATATGTATACATATATATGTGTATATAT ATATGTATATATATATGTATATATATATACGTATATATATGTATATATAT GTATATATATACATATATATACATATATATGTATATATATGTAT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR161_chr1_168074542_168141930	168119275	T T	TATACATA others(213): Show TATACATATATATGTATATATATGTATATATATACATATATATACATATA TATACATATATATACGTATATATATATACATATATATATACATATATATA TACACATATATATGTATACATATATATATACATATATATGTATACATATA TATATACACATATATATATACATATATATACATATATATGTGTACATATA TGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0315 a0001c0002t0017g0315	1	340	0.0029	220	c.-44 others(239): Show c.-44-14382_-44-14381insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATGTATATATATATGTGTATATATATAT GTATACATATATATGTATATATATATGTATACATATATATGTGTATATAT ATATGTATATATATATGTATATATATATACGTATATATATGTATATATAT GTATATATATGTATATATATACATATATATACATATATATGTAT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(213): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATATGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACATATATATGTACACATATA TATACATATATATGTACACAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0202 a0002c0002t0002g0202	1	418	0.0024	220	c.167 others(237): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATATGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAT ATATATGTACACATATATATACATATATATGTACACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GTPBP6_chrX_299759_323796	323550	G G	GTGTGTGT others(213): Show GTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGT CTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCA GGGACGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGC TCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCA GGTGGTGAGCTCTGGGACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	155	0.0065	220	c.-47 others(231): Show c.-4764_-4763insAACGTCCCAGAGCTCACCACCTGGGGACGCCCTC ATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTG ACGGCTACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGACTGACGGCTACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4755		chrX	TogoVar
GTPBP6_chrX_299759_323796	323690	G G	GTGTGTGT others(213): Show GTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTGGTGAGCTCAGGGACGTTTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGC TCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCA GGTGGTGAGCTCAGGGACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0041 a0009c0012t0002g0041	1	155	0.0065	220	c.-49 others(231): Show c.-4904_-4903insAACGTCCCTGAGCTCACCACCTGGGGACGCCCTC ATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTG ACGGCTACACACACACACACACACACACACACACACACACAAACGTCCCT GAGCTCACCACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCC AGGAGCCCAGGAGACTGACGGCTACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4895		chrX	TogoVar
HMGB4_chr1_33859079_33869791	33864929	A A	AGGAGAGG others(213): Show AGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGG AGTGGGATGGAGGGAGAGAAGGGGGACGAGGGGGAGGGAGAGGATGGGGA GAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAG GAGGGGGAGAGAGAGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGG AGGGAGGGGAGGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	402	0.0025	220	c.17 others(229): Show c.177_*178insGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAA GGGAGGGAGAAGGAGTGGGATGGAGGGAGAGAAGGGGGACGAGGGGGAGG GAGAGGATGGGGAGAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGG AAGGGAGGGAGAGGAGGGGGAGAGAGAGGAAGGGAGGGAGAGGAGGGGGA GAGAGGGGAAGGGAGGGAGGGGAGGGGGAGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		139		chr1	TogoVar
HMGB4_chr1_33859079_33869791	33864929	A A	AGGAGAGG others(213): Show AGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGG AGTGGGATGGAGGGAGAGAAGGGGGACGAGGGGGAGGGAGAGGATGGGGA GAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAG GAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGG AGGGAGGGGAGGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(38): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02015.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02976.hp1 HG04115.hp2 HG04228.hp2 NA18959.hp1 NA18963.hp1 NA18969.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19060.hp2 NA19081.hp2 NA19086.hp1 NA19089.hp2 NA20300.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0007 others(1): Show a0001c0001 a0002c0002 a0002c0007 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0004c0003t0001	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0007t0001g0000 others(1): Show a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0007t0001g0000 a0004c0003t0001g0000	41	402	0.1020	220	c.17 others(229): Show c.177_*178insGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAA GGGAGGGAGAAGGAGTGGGATGGAGGGAGAGAAGGGGGACGAGGGGGAGG GAGAGGATGGGGAGAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGG AAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGA GAGAGGGGAAGGGAGGGAGGGGAGGGGGAGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		139		chr1	TogoVar
HMGB4_chr1_33859079_33869791	33864929	A A	AGGAGAGG others(213): Show AGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGG AGTGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGA GAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGAG GAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGG AGGGAGGGGAGGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(334): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0006 a0007 a0008	a0001c0001 a0003c0004 a0005c0005 others(3): Show a0001c0001 a0003c0004 a0005c0005 a0006c0006 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0009t0001 a0008c0008t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(5): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0003c0004t0001g0000 a0005c0005t0001g0000 a0006c0006t0001g0000 a0007c0009t0001g0000 a0008c0008t0001g0000	337	402	0.8383	220	c.17 others(229): Show c.177_*178insGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAA GGGAGGGAGAAGGAGTGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGG GAGAGGATGGGGAGAGTGAGGAGGGGAGGGGAGGGGAGGGAGAGGAGGGG AAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGA GAGAGGGGAAGGGAGGGAGGGGAGGGGGAGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		139		chr1	TogoVar
HSD17B14_chr19_48808018_48841491	48834897	G G	GGCCTGGA others(213): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTC TGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	394	0.0025	220	c.128 others(235): Show c.128-540_128-539insTCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCA GACCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33323080	T T	TATATATA others(213): Show TATATATACATGGAATATATATATGGAATATATATACATGGAATATATAT ATGGAATATATATACATGGAATATATATATATGGAATATATATACATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	323	0.0031	220	c.-19 others(231): Show c.-1976_-1975insATATATACATGGAATATATATATGGAATATATAT ACATGGAATATATATATGGAATATATATACATGGAATATATATATATGGA ATATATATACATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1889		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132573587	T T	TGTGCCGT others(213): Show TGTGCCGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGTGAG GTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGTGAGGTTTTGTTGAGAT GTTGGGGTGTGTGTGCTGTGTGAGGTTTTGTTGATGTTGGGTTGTGTGTG CTGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGTGTGCCGTGTGAGGTTT TGTTGAGATGTTGGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	204	0.0049	220	c.76- others(237): Show c.76-34320_76-34319insGGAGGTTTTGTTGAGATGTTGGGGTGTG CGTGCCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTGTGAG GTTTTGTTGAGATGTTGGGGTGTGTGTGCTGTGTGAGGTTTTGTTGATGT TGGGTTGTGTGTGCTGTGGGAGGTTTTGTTGAGATGTTGGGGTGTGTGTG CCGTGTGAGGTTTTGTTGAGATGTTGGGGTGTGCGTGCCGTG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132764977	C C	CGGTGGGA others(213): Show CGGTGGGAGGGTGTGCGTGGTGACACTCAGGAACACGGCCGGGCCAGTCC TGCAGGGGTGGGAGGGTGTGCGTGGTGACACTCAGAAACACGGCCGGGTC AGTCCTGCTGTGGTGGGAGGGTGTGCGTGGTGACACTCAGGAACACGGTC GGGCCAGTCCTGCAGGGTTGAGAGGGTGTGTGTGGTGACACTCAGAAACA CGGCCGGGTCAGTCCTGCTGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0199 a0001c0003t0004g0199	1	204	0.0049	220	c.904 others(235): Show c.904-705_904-704insGCCGGGTCAGTCCTGCTGTGGTGGGAGGGT GTGCGTGGTGACACTCAGGAACACGGTCGGGCCAGTCCTGCAGGGTTGAG AGGGTGTGTGTGGTGACACTCAGAAACACGGCCGGGTCAGTCCTGCTGTG GTGGGAGGGTGTGCGTGGTGACACTCAGGAACACGGCCGGGCCAGTCCTG CAGGGGTGGGAGGGTGTGCGTGGTGACACTCAGAAACACG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(213): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	330	0.0030	220	c.267 others(239): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC3_chr12_61767_183455	131036	C C	CCGCGATC others(213): Show CCGCGATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACA CCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTC CCCACACCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTC TTCCTCCCCACACCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAG CGGCTCTTCCCCCCCACACCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0150 a0001c0007t0001g0150	1	282	0.0036	220	c.903 others(237): Show c.903+5125_903+5126insGCGATCCTCAGCACTGTGCCCCCCAGCT AGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCCTCAGCACTGTGCCCC CCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCCTCAGCACTG TGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCCTCA GCACTGTGCCCCCCAGCTAGCGGCTCTTCCCCCCCACACCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGAAAT others(213): Show TATGAAATATATATATGATATATATATGAAATATATATATGATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATG ATATATATATATGATATATATATGAGATATATATATGATATATATATGAG ATATATATATGAGATATATATATGATATATATATGAGATATATATATGAT ATATATGAGATATATATATGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	344	0.0029	220	c.25- others(235): Show c.25-1884_25-1883insATGAAATATATATATGATATATATATGAAA TATATATATGATATATATATGATATATATATATGATATATATATGATATA TATATATGATATATATATGATATATATATATGATATATATATGAGATATA TATATGATATATATATGAGATATATATATGAGATATATATATGATATATA TATGAGATATATATATGATATATATGAGATATATATATGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21			chr12	TogoVar
IRAG2_chr12_25047706_25113335	25106527	G G	GTCAGACT others(213): Show GTCAGACTCTGTCTCTTAAATATATATATATTATATATACATGTATTTAT ATATATGCACACATATAAAATATATATTAAATATGTGCACATATATAAAA TATGTGTATTATTAAATATGTATTATATAAATACATAATATATGCATAAT ATATATGTGTATATAATCTATAAATATGTGTATATATAATATATATTTTT AATATGTGTATATATAATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0301 a0005c0006t0001g0301	1	344	0.0029	220	c.114 others(237): Show c.1149-415_1149-414insCAGACTCTGTCTCTTAAATATATATATA TTATATATACATGTATTTATATATATGCACACATATAAAATATATATTAA ATATGTGCACATATATAAAATATGTGTATTATTAAATATGTATTATATAA ATACATAATATATGCATAATATATATGTGTATATAATCTATAAATATGTG TATATATAATATATATTTTTAATATGTGTATATATAATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25106551	T T	TACAGTAG others(213): Show TACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAAG CAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCTC CCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCACA CACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTAA CTATTAGGATTAAAGAAATGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 HG02723.hp2 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0312 a0003c0003t0001g0173 a0001c0001t0001g0312 a0003c0003t0001g0173	2	344	0.0058	220	c.114 others(237): Show c.1149-392_1149-391insACAGTAGTGCAACCATAGCTCACTACAG CCTCCAACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGA GGAATCCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATA AAGTATGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAA TCTGCCTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGC	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21			chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224725	T T	TACCCATC others(213): Show TACCCATCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACC CACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCA CCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATT TATCCACCTACCCACACATCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0182 a0004c0005t0001g0182	1	292	0.0034	220	c.121 others(239): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCA TCCATTTATCCACCTACCCACACATCCACCCATCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10224731	T T	TCCATCCA others(213): Show TCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCA CCCATCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACC TGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCATCCATTTA TCCACCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01884.hp2 HG02293.hp1 others(10): Show HG00733.hp2 HG01884.hp2 HG02293.hp1 HG03471.hp2 HG03710.hp1 HG04115.hp2 HG04184.hp1 NA18939.hp1 NA18969.hp2 NA19004.hp2 NA19009.hp2 NA19056.hp2 NA19077.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0018 a0008c0008 others(1): Show a0001c0001 a0001c0018 a0008c0008 a0009c0010	a0001c0001t0001 a0001c0018t0001 a0008c0008t0001 others(1): Show a0001c0001t0001 a0001c0018t0001 a0008c0008t0001 a0009c0010t0001	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0084 a0001c0001t0001g0203 a0001c0001t0001g0241 a0001c0018t0001g0150 a0008c0008t0001g0232 a0008c0008t0001g0258 a0008c0008t0001g0263 a0009c0010t0001g0007	13	292	0.0445	220	c.121 others(239): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCCATC CACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCA CCCATCCATTTATCCACCTACCCACACATCCACCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(213): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CACCAACACACACCACACCCACACCACATAAACCACACCCACACCCAACA CACATACCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02145.hp1 others(3): Show HG01167.hp1 HG01169.hp1 HG02145.hp1 HG02257.hp1 HG02717.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0007 a0001c0002t0005g0007	6	308	0.0195	220	c.-40 others(231): Show c.-4083_-4082insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGGTGTGGGTGTGGTGTGTGTTGGTGTGTGGTGTGTGTT GGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTGTG TGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGT GGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
ISYNA1_chr19_18429388_18443133	18442165	A A	ACCACACA others(213): Show ACCACACACCAACACACACCACACCCTAACACATACCACACCCACACCAC ACACCCACACACACCACACCCACCCCAACACACACCACACAACCCACACT GCACACCCCAACACACCACACCCTCACACCACACACCAACACACACCACA CCAACACACACCACACCCACACCACACATAAACCACACCCACACCCAACA CACATACCACATCCACACATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	308	0.0033	220	c.-40 others(231): Show c.-4083_-4082insGATGTGTGGATGTGGTATGTGTGTTGGGTGTGGG TGTGGTTTATGTGTGGTGTGGGTGTGGTGTGTGTTGGTGTGGTGTGTGTT GGTGTGTGGTGTGAGGGTGTGGTGTGTTGGGGTGTGCAGTGTGGGTTGTG TGGTGTGTGTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGT GGTATGTGTTAGGGTGTGGTGTGTGTTGGTGTGTGG	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding		4033		chr19	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406398	T T	TCTTCCTC others(213): Show TCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCT CGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGGCCTCTGTGACATCTAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0223 a0001c0001t0025g0223	1	276	0.0036	220	c.43 others(229): Show c.435_*436insCCTAGATGTCACAGAGGCCCACTCAGTGACAAACAC ACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGAC AAACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTC AGTGACAAACACACACTGAAGGCCTGAGGAAGCCGAGATGTCACAGAGGT CCACTCAGTGACACACACTGAAGGCCTGAGGAAG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	435		chr2	TogoVar
ITPR1_chr3_4488348_4852506	4619587	C C	CCTGCCCT others(213): Show CCTGCCCTCCCCTGCTCTCCTCTGCTCTCCCCTGCTCTCCTCTGCCCTCC CCTCCTCTCTTCTGCCCTCCCTTGCTCTCCTCTGCCCTCCCCTGCTCTCC TCTGCCCTCCCCTGCTCTCCTCTGCTCTCCCCTCCTCTCTTCTGCCCTCC CTTGCTCTCCTCTGCCCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCT TCTGCCCTCCCTTGCTCTCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0035 a0001c0024t0002g0035	1	176	0.0057	220	c.164 others(237): Show c.164-8152_164-8151insTCTCCCCTGCTCTCCTCTGCCCTCCCCT CCTCTCTTCTGCCCTCCCTTGCTCTCCTCTGCCCTCCCCTGCTCTCCTCT GCCCTCCCCTGCTCTCCTCTGCTCTCCCCTCCTCTCTTCTGCCCTCCCTT GCTCTCCTCTGCCCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCTTCT GCCCTCCCTTGCTCTCCTCTGCCCTCCCCTGCTCTCCTCTGC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAK1_chr1_64828229_64971549	64913707	G G	GGAAGGAA others(213): Show GGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	326	0.0031	220	c.-77 others(239): Show c.-77-27367_-77-27366insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar

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