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
HTT_chr4_3069681_3248957	3169024	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0045 a0045	a0045c0083 a0045c0083	a0045c0083t0003 a0045c0083t0003	a0045c0083t0003g0085 a0045c0083t0003g0085	1	291	0.0034	46	c.386 others(65): Show c.3865-3295_3865-3294insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	29/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HYDIN_chr16_70797084_71235722	70902821	A A	ATATATAT others(39): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0031 a0001c0059t0031	a0001c0059t0031g0026 a0001c0059t0031g0026	1	92	0.0109	46	c.884 others(63): Show c.8849+803_8849+804insAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(39): Show AATAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03669.hp1 NA18946.hp1 others(1): Show HG00408.hp2 HG03669.hp1 NA18946.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0070 a0002c0002t0002g0079 others(1): Show a0002c0002t0002g0066 a0002c0002t0002g0070 a0002c0002t0002g0079 a0002c0002t0002g0089	4	8	0.5000	46	c.372 others(63): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATTTAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	5	0.2000	46	c.372 others(63): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT ATATATATATATATATAT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202847695	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0005 a0001c0001t0030g0005	1	185	0.0054	46	c.-7- others(63): Show c.-7-18680_-7-18679insTATATATATATATATATATATATATATA TATATATATATATATATA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICAM2_chr17_63997595_64025633	64014675	A A	AAGGGAGG others(39): Show AAGGGAGGGAGGGAGGGAGAGAGAGAGAAAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	390	0.0026	46	c.-45 others(63): Show c.-45+5847_-45+5848insCTCTCTCTCTTTCTTTCTTTCTCTCTCT CTCCCTCCCTCCCTCCCT	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
IFNL2_chr19_39263396_39275188	39267983	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0001 a0006c0005t0001g0001	1	296	0.0034	46	c.-58 others(55): Show c.-586_-585insATATATATATATATATATATATATATATATATATAT ATATATATAT	IFNL2	ENSG00000183709.8	transcript	ENST00000331982.6	protein_coding		412		chr19	TogoVar
IFT43_chr14_75980763_76088742	76029871	A A	ATTTTATT others(39): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	388	0.0026	46	c.215 others(63): Show c.215+7505_215+7506insTATTTTATTTATTTTATTTTTTATTTTA TTTTATTTTATTTTATTT	IFT43	ENSG00000119650.13	transcript	ENST00000314067.11	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
IFT80_chr3_160251986_160404225	160381239	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	71	0.0141	46	c.259 others(61): Show c.259+263_259+264insATATATATATATATATATATATATATATAT ATATATATATATATAT	IFT80	ENSG00000068885.15	transcript	ENST00000326448.12	protein_coding	3/19			chr3	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATACATA others(39): Show CATACATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp2 others(4): Show HG00733.hp1 HG01069.hp1 HG01071.hp2 HG02970.hp1 HG02976.hp2 NA18954.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0124 a0001c0001t0001g0248 a0001c0001t0001g0252 a0002c0003t0002g0014	7	45	0.1556	46	c.20 others(57): Show c.2073_*2074insATACATATATATATATATATATATATATATATAT ATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IFTAP_chr11_36589502_36664272	36661259	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00621.hp2 others(23): Show HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01099.hp2 HG01168.hp1 HG01361.hp1 HG01934.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02615.hp1 HG02622.hp1 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03579.hp2 HG03654.hp2 HG06807.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18969.hp1 NA18988.hp1 NA19064.hp1 NA19068.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0002t0003g0204	26	64	0.4063	46	c.20 others(57): Show c.2073_*2074insATATATATATATATATATATATATATATATATAT ATATATATATAT	IFTAP	ENSG00000166352.18	transcript	ENST00000334307.10	protein_coding		1988		chr11	TogoVar
IGF1_chr12_102390874_102485563	102428236	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp1 NA18969.hp2 others(1): Show HG02056.hp1 HG02523.hp1 NA18969.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0034 a0001c0001t0001g0256 a0001c0001t0002g0071 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0256 a0001c0001t0002g0071 a0001c0001t0005g0261	4	160	0.0250	46	c.221 others(63): Show c.221-8547_221-8546insTATATATATATATATATATATATATATA TATATATATATATATATA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IGF2BP2_chr3_185638130_185830042	185800718	A A	AAAAAAGA others(39): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0069 a0001c0001t0026g0069	1	110	0.0091	46	c.239 others(65): Show c.239+22434_239+22435insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTTT	IGF2BP2	ENSG00000073792.16	transcript	ENST00000382199.7	protein_coding	2/15			chr3	TogoVar
IGLL5_chr22_22882816_22901111	22884073	C C	CTCTTCTG others(39): Show CTCTTCTGAAGAGCTCCAGCCAGTTCCTCCTCAGGCTTCCTCTACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	300	0.0033	46	c.-39 others(57): Show c.-3981_-3980insTCTTCTGAAGAGCTCCAGCCAGTTCCTCCTCAGG CTTCCTCTACTG	IGLL5	ENSG00000254709.8	transcript	ENST00000526893.6	protein_coding		3742		chr22	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03041.hp2 HG03195.hp2 others(1): Show HG00735.hp2 HG03041.hp2 HG03195.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 a0001c0001t0001 a0001c0001t0003 a0003c0003t0002	a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0003g0198 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0100 a0001c0001t0003g0198 a0003c0003t0002g0144	4	52	0.0769	46	c.71- others(63): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATATATATATATATATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(39): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0224 a0002c0002t0003g0224	1	41	0.0244	46	c.71- others(61): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCACACACACACAC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL12RB1_chr19_18053995_18091934	18088388	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0314 a0001c0001t0006g0314	1	403	0.0025	46	c.-15 others(57): Show c.-1566_-1565insATATATATATATATATATATATATATATATATAT ATATATATATAT	IL12RB1	ENSG00000096996.16	transcript	ENST00000593993.7	protein_coding		1455		chr19	TogoVar
IL12RB1_chr19_18053995_18091934	18088404	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0082 a0006c0006t0005g0082	1	333	0.0030	46	c.-15 others(57): Show c.-1582_-1581insTTATATATATATATATATATATATATATATATAT ATATATATATAT	IL12RB1	ENSG00000096996.16	transcript	ENST00000593993.7	protein_coding		1471		chr19	TogoVar
IL16_chr15_81191879_81319058	81243143	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0264 a0001c0002t0017g0264	1	308	0.0032	46	c.313 others(65): Show c.313-16608_313-16607insATATATACATATATATATATATATAT ATATATATATATATATATAT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17B_chr5_149369267_149384292	149370033	T T	TTTTTTTT others(39): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	46	c.43 others(57): Show c.4335_*4336insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4233		chr5	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	87	0.0115	46	c.139 others(63): Show c.139-2370_139-2369insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL1A_chr2_112768925_112789493	112776447	T T	TGACCCGC others(39): Show TGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCCACAACCAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG02486.hp2 others(3): Show HG00639.hp2 HG01167.hp2 HG02486.hp2 HG02559.hp2 HG03041.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0012 a0001c0001t0001g0045	6	223	0.0269	46	c.616 others(63): Show c.616-1226_616-1181dupGTGGTTGTGGGTTTTTGGGTAGGACATT CAGAGGAGGGGGCGGGTC	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL2RA_chr10_6005689_6067367	6051817	C C	CTATATAT others(39): Show CTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0117 a0001c0001t0001g0118	2	60	0.0333	46	c.64+ others(63): Show c.64+10270_64+10271insTATATATATATATATATATATATATATA TATATATATATATATATA	IL2RA	ENSG00000134460.19	transcript	ENST00000379959.8	protein_coding	1/7			chr10	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0300 a0003c0004t0008g0300	1	192	0.0052	46	c.852 others(61): Show c.852+572_852+573insAAAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0045 a0007c0012t0045	a0007c0012t0045g0006 a0007c0012t0045g0006	1	192	0.0052	46	c.852 others(61): Show c.852+572_852+573insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	15	0.0667	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	15	0.0667	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 NA18967.hp1 HG01256.hp1 HG01258.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0011 a0001c0005t0018 a0002c0002t0034 a0001c0005t0011 a0001c0005t0018 a0002c0002t0034	a0001c0005t0011g0002 a0001c0005t0018g0002 a0002c0002t0034g0043 a0001c0005t0011g0002 a0001c0005t0018g0002 a0002c0002t0034g0043	3	17	0.1765	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(39): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	15	0.0667	46	c.852 others(61): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL3RA_chrX_1331785_1387689	1360854	C C	CCTGTCTC others(39): Show CCTGTCTCTCTCTCCCTTCTCCCCTCTCTCTCTCTCCCTTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0093 a0003c0004t0007g0093	1	108	0.0093	46	c.759 others(63): Show c.759+1985_759+1986insTCCCCTCTCTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1361064	T T	TCTCTGTC others(39): Show TCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	92	0.0109	46	c.759 others(63): Show c.759+2182_759+2227dupGTCTCTCTCTCCCTTCCCCTCTCTGTCT CTCTCTCCCTTCCCCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366924	C C	CGCGGGGT others(39): Show CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGGTGA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	85	0.0118	46	c.874 others(63): Show c.874+1698_874+1699insAGCGGGGTGCGCCGGGGTGAGCGGGGTG AGCCGGGTGCGCGGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366936	C C	CGGGTGCG others(39): Show CGGGTGCGCGGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	94	0.0106	46	c.874 others(63): Show c.874+1696_874+1697insGTGAGCGGGGTGCGCCGGGTGAGCGGGG TGAGCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366936	C C	CGGGTGCG others(39): Show CGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGAGCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp1 HG02148.hp2 HG00673.hp1 HG02080.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0001g0102 a0001c0001t0002g0041 a0001c0001t0001g0019 a0001c0001t0001g0102 a0001c0001t0002g0041	3	96	0.0313	46	c.874 others(63): Show c.874+1698_874+1699insAGCGGGGTGCGCCGGGTGAGCGGGGTGA GCCGGGGTGCGCGGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366953	C C	CGGGGTGC others(39): Show CGGGGTGCGCCGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGCGCG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	110	0.0091	46	c.874 others(63): Show c.874+1710_874+1711insCGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGTGCGCGGGGGTGCGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1380456	G G	GAGGAAAT others(39): Show GAGGAAATGGGGGAGGAGGGGGGAAGGGAGGAGGGGGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	111	0.0090	46	c.981 others(61): Show c.981-567_981-566insAGGAAATGGGGGAGGAGGGGGGAAGGGAGG AGGGGGGAAGGGAGGA	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	10/11			chrX	TogoVar
IL6R_chr1_154400343_154474450	154447502	C C	CACACACA others(39): Show CACACACACACACACACATATATACACACATACATATATATACACAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19043.hp1 HG02109.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0251 a0003c0004t0010g0317 a0003c0004t0010g0251 a0003c0004t0010g0317	2	323	0.0062	46	c.950 others(61): Show c.950-622_950-621insCACACACACACACACATATATACACACATA CATATATATACACATA	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL6_chr7_22722200_22736998	22732328	A A	ACTATGTA others(39): Show ACTATGTATGTGTATATATAGTATATATAGTATATATAGTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	416	0.0024	46	c.75 others(55): Show c.755_*756insCTATGTATGTGTATATATAGTATATATAGTATATAT AGTATATATG	IL6	ENSG00000136244.12	transcript	ENST00000258743.10	protein_coding		331		chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111522926	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0042 a0001c0001t0006g0042	1	44	0.0227	46	c.-2- others(61): Show c.-2-1478_-2-1477insATATATATATATATATATATATATATATAT ATATATATATATATAT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	1/5			chr7	TogoVar
IMPG2_chr3_101217546_101325575	101256217	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAACGAACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0050 a0003c0009t0050	a0003c0009t0050g0230 a0003c0009t0050g0230	1	347	0.0029	46	c.115 others(65): Show c.1153+1311_1153+1312insTGTTCGTTCTTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	10/18			chr3	TogoVar
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(39): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	136	0.0074	46	c.42 others(57): Show c.4218_*4219insTCTCTCTCTCTCTATATATATATATATATATATA TATATATATATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INPP5A_chr10_132532787_132788480	132651329	A A	ATCCATCT others(39): Show ATCCATCTCCCCCGTCTCTGGGGAGGCCCTGGGTCCCCCGGCCTGGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18962.hp1 NA19011.hp2 HG02523.hp1 NA18962.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132	3	202	0.0149	46	c.306 others(61): Show c.306+912_306+957dupCTGGGTCCATCTCCCCCGTCTCTGGGGAGG CCCTGGGTCCCCCGGC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	72	0.0139	46	c.281 others(63): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(39): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0303 a0002c0002t0003g0303	1	72	0.0139	46	c.281 others(63): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INSC_chr11_15109923_15252208	15113119	C C	CTCTCTTT others(39): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA18948.hp2 HG03453.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0259 a0002c0004t0001g0253 a0001c0001t0001g0259 a0002c0004t0001g0253	2	209	0.0096	46	c.-19 others(57): Show c.-1930_-1929insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1803		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01361.hp2 others(1): Show HG01256.hp1 HG01258.hp2 HG01361.hp2 NA18973.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0003c0005t0001 a0001c0001t0001 a0001c0001t0002 a0003c0005t0001	a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0002g0264 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0002g0264 a0003c0005t0001g0216	4	149	0.0268	46	c.-19 others(57): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0243 a0001c0002t0003g0243	1	146	0.0068	46	c.-19 others(57): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15113145	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	260	0.0038	46	c.-19 others(57): Show c.-1904_-1903insTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1777		chr11	TogoVar
INSC_chr11_15109923_15252208	15113145	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0244 a0004c0006t0001g0244	1	260	0.0038	46	c.-19 others(57): Show c.-1904_-1903insTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1777		chr11	TogoVar
INTS4_chr11_77873720_77999668	77920232	C C	CACATATA others(39): Show CACATATATATACACATATATATACACATATACATACATATATACAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	334	0.0030	46	c.176 others(65): Show c.1764+1107_1764+1108insATGTATATATGTATGTATATGTGTAT ATATATGTGTATATATATGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar

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