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
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAAGG others(13): Show GGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03209.hp2 NA18522.hp2 HG02559.hp1 HG03209.hp2 NA18522.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0002 a0002c0017 a0012c0068 a0001c0002 a0002c0017 a0012c0068	a0001c0002t0004 a0002c0017t0018 a0012c0068t0004 a0001c0002t0004 a0002c0017t0018 a0012c0068t0004	a0001c0002t0004g0092 a0002c0017t0018g0108 a0012c0068t0004g0105 a0001c0002t0004g0092 a0002c0017t0018g0108 a0012c0068t0004g0105	3	142	0.0211	20	c.507 others(41): Show c.5074-21045_5074-21026dupTTTCCTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAGGG others(13): Show GGGAAGGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0007	a0002c0010t0007g0083 a0002c0010t0007g0083	1	142	0.0070	20	c.507 others(41): Show c.5074-21026_5074-21025insTTTCCTTTCCTTTCCCTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516295	A A	AGGAAAGG others(13): Show AGGAAAGGAAAGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03130.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0003 a0001c0037t0009 a0001c0001t0003 a0001c0037t0009	a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0037t0009g0052 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0037t0009g0052	3	142	0.0211	20	c.507 others(41): Show c.5074-21036_5074-21035insCTTCCCTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516320	A A	AGGAAAGG others(13): Show AGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0013 a0004c0014t0013	a0004c0014t0013g0078 a0004c0014t0013g0094 a0004c0014t0013g0078 a0004c0014t0013g0094	2	142	0.0141	20	c.507 others(41): Show c.5074-21061_5074-21060insCTTCCTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565848	A A	AGAGGAGA others(13): Show AGAGGAGAGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0035 a0005c0036 a0001c0035 a0005c0036	a0001c0035t0027 a0005c0036t0015 a0001c0035t0027 a0005c0036t0015	a0001c0035t0027g0026 a0005c0036t0015g0101 a0001c0035t0027g0026 a0005c0036t0015g0101	2	142	0.0141	20	c.463 others(39): Show c.4631-3916_4631-3897dupCCCTCCCCTCTCCTCTCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567982	A A	ATATATAT others(13): Show ATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0034 a0003c0033t0034	a0003c0033t0034g0034 a0003c0033t0034g0034	1	142	0.0070	20	c.463 others(39): Show c.4631-6031_4631-6030insATATATATAATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26666135	G G	GAGATAGA others(13): Show GAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02922.hp2 HG03195.hp1 others(3): Show HG00642.hp2 HG02922.hp2 HG03195.hp1 HG03834.hp2 NA18960.hp2 NA19056.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0008 a0001c0015 others(1): Show a0001c0001 a0001c0008 a0001c0015 a0011c0067	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0008t0043 a0001c0015t0044 a0011c0067t0003	a0001c0001t0001g0036 a0001c0001t0003g0065 a0001c0001t0010g0127 others(3): Show a0001c0001t0001g0036 a0001c0001t0003g0065 a0001c0001t0010g0127 a0001c0008t0043g0111 a0001c0015t0044g0106 a0011c0067t0003g0007	6	142	0.0423	20	c.141 others(36): Show c.1410-104_1410-85dupATCTATCTATCTATCTATCT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26768994	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0002 a0001c0059t0002	a0001c0059t0002g0090 a0001c0059t0002g0090	1	142	0.0070	20	c.163 others(39): Show c.163+21143_163+21162dupGTGTGTGTGTGTGTGTGTGT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26790586	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20752.hp1 HG02735.hp1 NA20752.hp1	a0001 a0001	a0001c0028 a0001c0060 a0001c0028 a0001c0060	a0001c0028t0001 a0001c0060t0002 a0001c0028t0001 a0001c0060t0002	a0001c0028t0001g0010 a0001c0060t0002g0069 a0001c0028t0001g0010 a0001c0060t0002g0069	2	142	0.0141	20	c.93- others(33): Show c.93-379_93-360dupGTGTGTGTGTGTGTGTGTGT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR3_chr6_33616322_33701562	33633675	T T	TGGCCCTC others(13): Show TGGCCCTCCCTTGGCGGCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0015 a0015	a0015c0064 a0015c0064	a0015c0064t0001 a0015c0064t0001	a0015c0064t0001g0065 a0015c0064t0001g0065	1	342	0.0029	20	c.90- others(35): Show c.90-6805_90-6786dupCCTCCCTTGGCGGCGGCGGC	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	1/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02896.hp2 HG01167.hp1 HG01169.hp1 HG02896.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0001 a0005c0009t0004g0018 a0005c0009t0004g0001 a0005c0009t0004g0018	3	312	0.0096	20	c.-98 others(37): Show c.-98+5507_-98+5526dupTATATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTATAT others(13): Show CTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 HG02145.hp1 HG03130.hp1	a0008 a0010 a0008 a0010	a0008c0015 a0010c0029 a0008c0015 a0010c0029	a0008c0015t0009 a0010c0029t0005 a0008c0015t0009 a0010c0029t0005	a0008c0015t0009g0162 a0010c0029t0005g0024 a0008c0015t0009g0162 a0010c0029t0005g0024	2	312	0.0064	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTAT others(13): Show CTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0018 a0018	a0018c0049 a0018c0049	a0018c0049t0011 a0018c0049t0011	a0018c0049t0011g0030 a0018c0049t0011g0030	1	312	0.0032	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(13): Show CTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19081.hp1 HG01175.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0002t0001 a0001c0003t0002	a0001c0002t0001g0102 a0001c0003t0002g0035 a0001c0002t0001g0102 a0001c0003t0002g0035	2	312	0.0064	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTCTATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(13): Show CTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02723.hp1 NA19011.hp1 others(1): Show HG01261.hp2 HG02723.hp1 NA19011.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0003 a0002c0001 a0005c0009 others(1): Show a0001c0003 a0002c0001 a0005c0009 a0009c0019	a0001c0003t0001 a0002c0001t0002 a0005c0009t0004 others(1): Show a0001c0003t0001 a0002c0001t0002 a0005c0009t0004 a0009c0019t0004	a0001c0003t0001g0042 a0002c0001t0002g0009 a0005c0009t0004g0041 others(1): Show a0001c0003t0001g0042 a0002c0001t0002g0009 a0005c0009t0004g0041 a0009c0019t0004g0040	4	312	0.0128	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	312	0.0032	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTCTCTCTATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03209.hp1 HG00140.hp1 HG03209.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0009 a0001c0003 a0005c0009	a0001c0003t0001 a0005c0009t0029 a0001c0003t0001 a0005c0009t0029	a0001c0003t0001g0062 a0005c0009t0029g0061 a0001c0003t0001g0062 a0005c0009t0029g0061	2	312	0.0064	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTCTCTCTCTATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01517.hp2 NA18990.hp1 others(1): Show HG00735.hp2 HG01517.hp2 NA18990.hp1 NA19082.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0019 a0001c0003 a0009c0019	a0001c0003t0001 a0001c0003t0002 a0009c0019t0004 a0001c0003t0001 a0001c0003t0002 a0009c0019t0004	a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0002g0066 others(1): Show a0001c0003t0001g0064 a0001c0003t0001g0067 a0001c0003t0002g0066 a0009c0019t0004g0065	4	312	0.0128	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0069 a0001c0003t0001g0069	1	312	0.0032	20	c.-98 others(37): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31595345	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0222 a0006c0010t0004g0222	1	312	0.0032	20	c.122 others(41): Show c.1228+12163_1228+12182dupACACACACACACACACACAC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL2_chr16_19108964_19126629	19110393	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03486.hp2 HG02280.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0051 a0001c0001t0007 a0001c0001t0051	a0001c0001t0007g0000 a0001c0001t0051g0000 a0001c0001t0007g0000 a0001c0001t0051g0000	2	330	0.0061	20	c.-40 others(31): Show c.-4069_-4068insAAAAAAAAAAAAAAAAAAAA	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding		3570		chr16	TogoVar
ITSN1_chr21_33637501_33904861	33784310	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG03139.hp1 HG01952.hp2 HG02055.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0029 a0001c0002 a0001c0020 a0001c0029	a0001c0002t0074 a0001c0020t0056 a0001c0029t0069 a0001c0002t0074 a0001c0020t0056 a0001c0029t0069	a0001c0002t0074g0174 a0001c0020t0056g0062 a0001c0029t0069g0153 a0001c0002t0074g0174 a0001c0020t0056g0062 a0001c0029t0069g0153	3	242	0.0124	20	c.182 others(39): Show c.1824+2202_1824+2221dupACACACACACACACACACAC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	16/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33876069	T T	TTTCTCCC others(13): Show TTTCTCCCTTTTTCTTTCCTC	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0203 a0004c0013t0002g0203	1	242	0.0041	20	c.434 others(37): Show c.4341+551_4341+570dupCTCCCTTTTTCTTTCCTCTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33877059	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02897.hp2 HG03017.hp2 others(5): Show HG02818.hp1 HG02897.hp2 HG03017.hp2 HG06807.hp2 NA19043.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0021	a0001c0001t0003 a0001c0001t0048 a0001c0002t0013 others(4): Show a0001c0001t0003 a0001c0001t0048 a0001c0002t0013 a0001c0002t0070 a0001c0006t0016 a0001c0007t0061 a0001c0021t0011	a0001c0001t0003g0182 a0001c0001t0003g0225 a0001c0001t0048g0040 others(5): Show a0001c0001t0003g0182 a0001c0001t0003g0225 a0001c0001t0048g0040 a0001c0002t0013g0241 a0001c0002t0070g0242 a0001c0006t0016g0178 a0001c0007t0061g0179 a0001c0021t0011g0071	8	242	0.0331	20	c.434 others(39): Show c.4341+1550_4341+1551insTTTTTTTTTTTTTTTTTTTT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(13): Show AATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01099.hp1 others(6): Show HG00323.hp2 HG00639.hp2 HG01099.hp1 HG02717.hp1 HG02965.hp2 HG03471.hp1 HG03710.hp1 NA18952.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0010c0012	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0010c0012t0001	a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0087 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0087 a0001c0001t0001g0114 a0002c0003t0001g0137 a0002c0003t0001g0144 a0002c0003t0001g0146 a0003c0002t0001g0178 a0010c0012t0001g0018	9	224	0.0402	20	c.-33 others(37): Show c.-33-9201_-33-9200insATATGTATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337327	T T	TACACATA others(13): Show TACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0201 a0002c0016t0001g0201	1	224	0.0045	20	c.-33 others(37): Show c.-33-9213_-33-9212insGTATATATATATATATGTGT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00544.hp2 others(41): Show HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01257.hp1 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03704.hp2 NA18945.hp2 NA18963.hp1 NA18969.hp2 NA19002.hp2 NA19011.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0013 a0014	a0001c0001 a0001c0005 a0002c0003 others(5): Show a0001c0001 a0001c0005 a0002c0003 a0002c0016 a0003c0002 a0005c0006 a0013c0017 a0014c0019	a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 a0002c0003t0006 a0002c0016t0001 a0003c0002t0001 a0005c0006t0001 a0013c0017t0001 a0014c0019t0001	a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0043 others(41): Show a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0005t0001g0151 a0002c0003t0001g0197 a0002c0003t0006g0002 a0002c0016t0001g0201 a0003c0002t0001g0195 a0005c0006t0001g0203 a0013c0017t0001g0207 a0014c0019t0001g0153	44	224	0.1964	20	c.-14 others(31): Show c.-1471_-1470insTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVD_chr15_40400795_40426308	40422585	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	378	0.0027	20	c.43 others(31): Show c.4322_*4323insTTTTTTTTTTTTTTTTTTTT	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		1278		chr15	TogoVar
IWS1_chr2_127475812_127531489	127525112	A A	AGGGGGGT others(13): Show AGGGGGGTGGGGTACGGGCAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03139.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0031 a0003c0003t0002g0032 others(2): Show a0003c0003t0002g0013 a0003c0003t0002g0031 a0003c0003t0002g0032 a0003c0003t0002g0033 a0003c0003t0002g0034	6	338	0.0178	20	c.34+ others(35): Show c.34+1043_34+1062dupATGCCCGTACCCCACCCCCC	IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding	1/13			chr2	TogoVar
IYD_chr6_150364012_150410969	150388627	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA20300.hp1 NA18948.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0227 a0001c0001t0005g0220 a0001c0001t0004g0227 a0001c0001t0005g0220	2	414	0.0048	20	c.179 others(35): Show c.179-723_179-722insTCTTTCTTTCTTTCTTTCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IYD_chr6_150364012_150410969	150388630	G G	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02647.hp2 HG02976.hp1 others(4): Show HG02602.hp2 HG02647.hp2 HG02976.hp1 HG03490.hp2 NA18982.hp2 NA19067.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0103 a0002c0002t0041	a0001c0001t0002g0027 a0001c0001t0003g0034 a0001c0001t0003g0273 others(3): Show a0001c0001t0002g0027 a0001c0001t0003g0034 a0001c0001t0003g0273 a0001c0001t0018g0322 a0001c0001t0103g0027 a0002c0002t0041g0292	7	414	0.0169	20	c.179 others(35): Show c.179-686_179-667dupTCTTTCTTTCTTTCTTTCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(13): Show CCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01257.hp2 HG01346.hp2 others(8): Show HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01975.hp2 HG02027.hp2 HG02071.hp2 HG02717.hp2 NA18945.hp1 NA18950.hp1 NA19076.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0061 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0034	11	426	0.0258	20	c.-79 others(29): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JADE2_chr5_134520670_134588227	134539043	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00733.hp1 HG02135.hp1 others(20): Show HG00558.hp1 HG00733.hp1 HG02135.hp1 HG02258.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG03130.hp2 HG04204.hp1 NA18612.hp1 NA18942.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA19060.hp1 NA19066.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0002t0007 a0001c0003t0001 a0005c0012t0001	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(20): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0220 a0001c0001t0002g0264 a0001c0001t0002g0352 a0001c0001t0004g0101 a0001c0001t0006g0206 a0001c0001t0006g0215 a0001c0001t0010g0317 a0001c0001t0012g0122 a0001c0001t0015g0192 a0001c0002t0007g0285 a0001c0003t0001g0027 a0005c0012t0001g0099	23	388	0.0593	20	c.153 others(35): Show c.153+976_153+995dupATTTATTTATTTATTTATTT	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
JADE2_chr5_134520670_134588227	134539043	T T	TTTTTTTT others(13): Show TTTTTTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0217 a0001c0001t0050g0217	1	388	0.0026	20	c.153 others(35): Show c.153+963_153+964insTTTTATTTATTTATTTATTT	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	258	0.0039	20	c.-12 others(39): Show c.-12+10683_-12+10702dupTTTTTTTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46926021	A A	AATTTTAT others(13): Show AATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	258	0.0039	20	c.-12 others(39): Show c.-12+13339_-12+13358dupTTTTATTTTATTTTATTTTA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAG1_chr20_10632684_10678999	10664373	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0008 a0001c0022t0008	a0001c0022t0008g0097 a0001c0022t0008g0097	1	412	0.0024	20	c.388 others(35): Show c.388-379_388-360dupGTGTGTGTGTGTGTGTGTGT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAK1_chr1_64828229_64971549	64860826	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0202 a0001c0004t0002g0207 a0001c0004t0002g0202 a0001c0004t0002g0207	2	326	0.0061	20	c.117 others(37): Show c.1177-584_1177-565dupCACACACACACACACACACA	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64860929	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01934.hp2 HG01358.hp1 HG01934.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0017 a0001c0004 a0002c0017	a0001c0004t0002 a0002c0017t0002 a0001c0004t0002 a0002c0017t0002	a0001c0004t0002g0199 a0002c0017t0002g0206 a0001c0004t0002g0199 a0002c0017t0002g0206	2	326	0.0061	20	c.117 others(37): Show c.1177-687_1177-668dupACACACACACACACACACAC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18957.hp2 HG02647.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0008 a0001c0007t0001 a0001c0001t0008 a0001c0007t0001	a0001c0001t0008g0227 a0001c0007t0001g0323 a0001c0001t0008g0227 a0001c0007t0001g0323	2	326	0.0061	20	c.-77 others(39): Show c.-77-16243_-77-16242insACTCTCTCTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp2 HG04199.hp2 others(6): Show HG01261.hp1 HG02293.hp2 HG04199.hp2 HG06807.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp2 NA19074.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0113 others(6): Show a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0002g0172 a0001c0001t0002g0194	9	326	0.0276	20	c.-77 others(39): Show c.-77-16243_-77-16242insACACTCTCTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20300.hp1 HG03579.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0001 a0001c0005t0001 a0001c0008t0001	a0001c0005t0001g0217 a0001c0008t0001g0110 a0001c0005t0001g0217 a0001c0008t0001g0110	2	326	0.0061	20	c.-77 others(39): Show c.-77-16243_-77-16242insACACACTCTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0121 a0001c0005t0001g0121	1	326	0.0031	20	c.-77 others(39): Show c.-77-16243_-77-16242insACACACACTCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0088 a0001c0003t0001g0088	1	326	0.0031	20	c.-77 others(39): Show c.-77-16243_-77-16242insACACACACACTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913641	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02109.hp2 HG03098.hp2 HG00323.hp1 HG02109.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0008 a0001c0003t0001g0205 a0001c0003t0001g0322 a0001c0001t0004g0008 a0001c0003t0001g0205 a0001c0003t0001g0322	3	326	0.0092	20	c.-77 others(39): Show c.-77-27301_-77-27300insTCTTTCCTTCCTTCCTTCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913705	A A	AAGGAAGG others(13): Show AAGGAAGGAAAGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA21309.hp2 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0188 a0001c0001t0007g0011 a0001c0001t0001g0188 a0001c0001t0007g0011	2	326	0.0061	20	c.-77 others(39): Show c.-77-27365_-77-27364insCCCTCCCTTCTTTCCTTCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913705	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAAGAAGGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01192.hp1 others(14): Show HG00621.hp2 HG00639.hp1 HG01192.hp1 HG02056.hp2 HG02080.hp1 HG02293.hp1 HG03831.hp2 HG03942.hp2 NA18950.hp1 NA18961.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA19005.hp1 NA19007.hp2 NA19078.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0015t0002	a0001c0001t0001g0085 a0001c0002t0001g0232 a0001c0002t0002g0058 others(14): Show a0001c0001t0001g0085 a0001c0002t0001g0232 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0068 a0001c0002t0002g0087 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0108 a0001c0002t0002g0174 a0001c0002t0002g0244 a0001c0002t0002g0275 a0001c0003t0001g0081 a0001c0003t0001g0088 a0001c0003t0001g0312 a0001c0015t0002g0229	17	326	0.0522	20	c.-77 others(39): Show c.-77-27365_-77-27364insCCCTTCTTTCCTTCCTTCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913707	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02523.hp2 HG02055.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0094 a0001c0003t0001g0317 a0001c0001t0001g0094 a0001c0003t0001g0317	2	326	0.0061	20	c.-77 others(39): Show c.-77-27367_-77-27366insTTTCCTTCCTTCCTTCCTTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5026248	T T	TAGTACAT others(13): Show TAGTACATGATATTGGTAATC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0172 a0001c0001t0017g0172	1	364	0.0028	20	c.227 others(37): Show c.227-3533_227-3514dupGTACATGATATTGGTAATCA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp2 HG03579.hp2 HG00639.hp2 HG02615.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0031 a0001c0004t0052 a0001c0004t0006 a0001c0004t0031 a0001c0004t0052	a0001c0004t0006g0041 a0001c0004t0031g0043 a0001c0004t0052g0044 a0001c0004t0006g0041 a0001c0004t0031g0043 a0001c0004t0052g0044	3	364	0.0082	20	c.105 others(39): Show c.1057-2371_1057-2352dupAAAAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar

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