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
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0063 a0001c0001t0001g0067	2	34	0.0588	50	c.240 others(69): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131783821	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	312	0.0032	50	c.240 others(69): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATATATATATAAA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	194	0.0052	50	c.819 others(65): Show c.819-108_819-107insGCGCGCGCGCACACACACACACACACACAC ACACACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SFXN4_chr10_119135767_119170714	119146460	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCG C	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	194	0.0052	50	c.819 others(65): Show c.819-108_819-107insGCGCGCGCACACACACACACACACACACAC ACACACACACACACACACAC	SFXN4	ENSG00000183605.17	transcript	ENST00000355697.7	protein_coding	12/13			chr10	TogoVar
SGCG_chr13_23175979_23330162	23298162	C C	CTGGTATT others(43): Show CTGGTATTCTTCATGTATATTTTTTGTTTTATAGTCTCTATCTCTGTTCT T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	352	0.0028	50	c.578 others(67): Show c.578+2675_578+2676insTGGTATTCTTCATGTATATTTTTTGTTT TATAGTCTCTATCTCTGTTCTT	SGCG	ENSG00000102683.8	transcript	ENST00000218867.4	protein_coding	6/7			chr13	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18949.hp2 NA18957.hp1 others(7): Show HG02129.hp2 NA18949.hp2 NA18957.hp1 NA18962.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18990.hp1 NA19060.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0039 a0002c0002 a0001c0001 a0001c0039 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0039t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0039t0001 a0002c0002t0003	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(7): Show a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0236 a0001c0039t0001g0232 a0002c0002t0003g0233	10	175	0.0571	50	c.57+ others(65): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416448	G G	GAAAGAAA others(43): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0157 a0001c0001t0004g0157	1	362	0.0028	50	c.-44 others(61): Show c.-4433_-4432insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4313		chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80545481	T T	TCTCTTCT others(43): Show TCTCTTCTCCCTTTTCTTCTTCTTCTTCCTCTCCTCCTTTCTTTTCTCCT C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG02559.hp2 others(7): Show HG01069.hp1 HG01243.hp2 HG02559.hp2 HG02630.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 NA18522.hp1 NA18906.hp2	a0001 a0005 a0006 others(3): Show a0001 a0005 a0006 a0007 a0013 a0017	a0001c0001 a0005c0005 a0006c0008 others(3): Show a0001c0001 a0005c0005 a0006c0008 a0007c0015 a0013c0025 a0017c0026	a0001c0001t0007 a0005c0005t0006 a0005c0005t0009 others(6): Show a0001c0001t0007 a0005c0005t0006 a0005c0005t0009 a0006c0008t0005 a0006c0008t0006 a0007c0015t0006 a0007c0015t0007 a0013c0025t0009 a0017c0026t0006	a0001c0001t0007g0200 a0001c0001t0007g0201 a0005c0005t0006g0204 others(7): Show a0001c0001t0007g0200 a0001c0001t0007g0201 a0005c0005t0006g0204 a0005c0005t0009g0198 a0006c0008t0005g0289 a0006c0008t0006g0199 a0007c0015t0006g0206 a0007c0015t0007g0205 a0013c0025t0009g0202 a0017c0026t0006g0203	10	320	0.0313	50	c.184 others(67): Show c.184+6976_184+7025dupCTTTTCTTCTTCTTCTTCCTCTCCTCCT TTCTTTTCTCCTCCTCTTCTCC	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH3BP2_chr4_2788085_2846096	2801111	C C	CGCGGAGG others(43): Show CGCGGAGGACCGGGGCCCAGACTGCAGGGGTGCAGAGAACCTGCGGCAGA G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0077 a0001c0005t0077	a0001c0005t0077g0084 a0001c0005t0077g0084	1	376	0.0027	50	c.-5+ others(65): Show c.-5+8010_-5+8011insACCTGCGGCAGAGGCGGAGGACCGGGGCCC AGACTGCAGGGGTGCAGAGA	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3KBP1_chrX_19528977_19892600	19584137	A A	AATATATA others(43): Show AATATATATTTATATATAATATATTTATATATATTTATATATAATATATT T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	202	0.0050	50	c.129 others(69): Show c.1298+4456_1298+4505dupAAATATATTATATATAAATATATATA AATATATTATATATAAATATATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	12/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(43): Show ATATATATATATAAAATATATATATTATATATATATATAAAATATATATA T	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	224	0.0045	50	c.427 others(67): Show c.427+5291_427+5292insATATATATATTTTATATATATATATAAT ATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(43): Show ATATATATATATATAAAATATATATATTATATATATATAAAATATATATA T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0154 a0001c0001t0022g0154	1	224	0.0045	50	c.427 others(67): Show c.427+5291_427+5292insATATATATATTTTATATATATATAATAT ATATATTTTATATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368500	A A	ATATATAT others(43): Show ATATATATATAAAATATATATATATTATATATATATAAAATATATATATA T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0015 a0010c0017t0015	a0010c0017t0015g0136 a0010c0017t0015g0136	1	278	0.0036	50	c.427 others(67): Show c.427+5289_427+5290insATATATATATATTTTATATATATATAAT ATATATATATTTTATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368516	T T	TATATATA others(43): Show TATATATATTATATATATATATAAAATATATATATTATATATATATATAA A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0261 a0001c0001t0012g0261	1	276	0.0036	50	c.427 others(67): Show c.427+5273_427+5274insTTTATATATATATATAATATATATATTT TATATATATATATAATATATAT	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368530	A A	ATATATAT others(43): Show ATATATATATAAAATATATATATTATATATATATATAAAATATATATATA T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19085.hp2 NA19065.hp2 NA19085.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0033 a0008c0011t0035 a0008c0011t0033 a0008c0011t0035	a0008c0011t0033g0009 a0008c0011t0035g0010 a0008c0011t0033g0009 a0008c0011t0035g0010	2	278	0.0072	50	c.427 others(67): Show c.427+5259_427+5260insATATATATATATTTTATATATATATATA ATATATATATTTTATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(43): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19056.hp1 HG01928.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0104 a0001c0001t0009g0152 a0001c0001t0002g0104 a0001c0001t0009g0152	2	51	0.0392	50	c.214 others(69): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHC2_chr19_411589_466033	432391	T T	TTAGAGGA others(43): Show TTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGATCGTGAGTGAGAG A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0149 a0001c0002t0003g0149	1	152	0.0066	50	c.111 others(69): Show c.1111-1645_1111-1644insTCTCTCACTCACGATCTCACGATGAA GCGCCATCTGCCCGGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432526	T T	TAGATGGC others(43): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAGGAGGCCGGG C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG01952.hp2 others(21): Show HG00423.hp2 HG00558.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG03831.hp2 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18983.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0004 a0001c0002t0001g0079 a0001c0002t0001g0080 others(20): Show a0001c0002t0001g0004 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0108 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0003g0044 a0001c0002t0003g0084 a0001c0002t0003g0148 a0001c0002t0003g0150 a0001c0002t0003g0160 a0001c0002t0004g0087 a0001c0002t0004g0096 a0001c0002t0004g0107 a0001c0002t0004g0158	24	203	0.1182	50	c.111 others(69): Show c.1111-1780_1111-1779insGCCCGGCCTCCTCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432558	G G	GTGAGAGA others(43): Show GTGAGAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGA A	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA19004.hp2 HG04228.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0146 a0001c0002t0003g0175 a0001c0002t0001g0146 a0001c0002t0003g0175	2	210	0.0095	50	c.111 others(69): Show c.1111-1812_1111-1811insTTCACGATCTCACTCACGATGAAGCG CCATCTGCCCGGCCTCCTCTCTCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432565	A A	AGGAGGCC others(43): Show AGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAG T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19009.hp1 NA18960.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0091 a0001c0002t0003g0174 a0001c0002t0003g0091 a0001c0002t0003g0174	2	185	0.0108	50	c.111 others(69): Show c.1111-1819_1111-1818insACTCTCACTCACGATCTCACTCACGA TGAAGCGCCATCTGCCCGGCCTCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432584	T T	TAGATGGC others(43): Show TAGATGGCGCTTCATCGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGG C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0047 a0005c0009t0005g0047	1	205	0.0049	50	c.111 others(69): Show c.1111-1838_1111-1837insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432986	T T	TAGATGGC others(43): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAGGAGGCCGGG C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0149 a0001c0002t0003g0149	1	190	0.0053	50	c.111 others(69): Show c.1110+1722_1110+1723insGCCCGGCCTCCTCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433121	A A	AGTGAGAT others(43): Show AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCAT C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0002 a0009c0021t0002 a0001c0001t0002 a0009c0021t0002	a0001c0001t0002g0101 a0009c0021t0002g0028 a0001c0001t0002g0101 a0009c0021t0002g0028	2	210	0.0095	50	c.111 others(69): Show c.1110+1587_1110+1588insGATGAAGCGCCATCTGCCCGGCCTCC TCTAACTCTCACTCACGATCTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433160	T T	TGGCGCTT others(43): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGG C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	209	0.0048	50	c.111 others(69): Show c.1110+1548_1110+1549insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433276	T T	TGGCGCTT others(43): Show TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0159 a0001c0016t0001g0159	1	180	0.0056	50	c.111 others(69): Show c.1110+1432_1110+1433insGCCCGGCCTCCTCTATCTCTCACTCA CGATCTCACTCACGATGAAGCGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433732	T T	TAGATGGC others(43): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGAGGAGGCCGGG C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02572.hp2 HG02922.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0002 a0009c0021t0002 a0001c0001t0002 a0009c0021t0002	a0001c0001t0002g0101 a0009c0021t0002g0028 a0001c0001t0002g0101 a0009c0021t0002g0028	2	209	0.0096	50	c.111 others(67): Show c.1110+976_1110+977insGCCCGGCCTCCTCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAATAA others(43): Show AAAAATAAAATAACATAAAATAACATAAAATAAAATAAAATAAAATAAAA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0001 a0001c0002t0006g0001	1	41	0.0244	50	c.-40 others(61): Show c.-4063_-4062insATTTTATTTTATTTTATTTTATTTTATGTTATTT TATGTTATTTTATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHOX2_chr3_158090905_158111420	158096907	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATGGCAAATATAT G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0057 a0001c0001t0032g0057	1	378	0.0026	50	c.11 others(61): Show c.1119_*1120insCATATATTTGCCATATATATATATATATATATAT ATATATATATATATAT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1119		chr3	TogoVar
SHPK_chr17_3603240_3641250	3635236	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAAGGAAGGAA G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG01258.hp2 others(1): Show HG00323.hp2 HG01256.hp1 HG01258.hp2 HG01515.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0002 a0002c0002t0022 a0001c0001t0009 a0002c0002t0002 a0002c0002t0022	a0001c0001t0009g0343 a0001c0001t0009g0344 a0002c0002t0002g0345 others(1): Show a0001c0001t0009g0343 a0001c0001t0009g0344 a0002c0002t0002g0345 a0002c0002t0022g0342	4	363	0.0110	50	c.168 others(65): Show c.168+815_168+816insCTTCCTTCCTTCCCTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792153	A A	ATAGAATA others(43): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0001 a0001c0076t0001	a0001c0076t0001g0083 a0001c0076t0001g0083	1	253	0.0040	50	c.165 others(67): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAGTAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(43): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAAGA A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0010 a0010	a0010c0053 a0010c0053	a0010c0053t0002 a0010c0053t0002	a0010c0053t0002g0246 a0010c0053t0002g0246	1	193	0.0052	50	c.165 others(67): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(43): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATGAAAAAAGAAAAGA A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0242 a0003c0009t0004g0242	1	193	0.0052	50	c.165 others(67): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATGAAAAAAGAAAAGAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76608663	T T	TAGCATAG others(43): Show TAGCATAGCATAGCATAGCATAGCATAGCACAGCACAGCACAGCACAGCA C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0196 a0002c0003t0001g0196	1	210	0.0048	50	c.323 others(69): Show c.323+52904_323+52905insTAGCATAGCATAGCATAGCATAGCAC AGCACAGCACAGCACAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(43): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0030 a0030	a0030c0048 a0030c0048	a0030c0048t0001 a0030c0048t0001	a0030c0048t0001g0108 a0030c0048t0001g0108	1	168	0.0060	50	c.323 others(69): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SIGIRR_chr11_400716_419999	401770	G G	GCCCCGAC others(43): Show GCCCCGACTCACCCCGACCCCCGGCCCCGCTCCACCCCCCCGACCCCGGC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0036 a0002c0002t0003g0036	1	170	0.0059	50	c.41 others(61): Show c.4125_*4126insGGCCGGGGTCGGGGGGGTGGAGCGGGGCCGGGGG TCGGGGTGAGTCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3945		chr11	TogoVar
SIGIRR_chr11_400716_419999	402835	T T	TCACCCGG others(43): Show TCACCCGGGACCCGCCTCACCCCGACCCCGCTCACCCCCGGACCCCGCTC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	240	0.0042	50	c.30 others(61): Show c.3060_*3061insTGAGCGGGGTCCGGGGGTGAGCGGGGTCGGGGTG AGGCGGGTCCCGGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2880		chr11	TogoVar
SIGIRR_chr11_400716_419999	402837	A A	ACCCCGGG others(43): Show ACCCCGGGACCCCGCTCACCCCCGACCCCGCTCACCCCGGACCCCGCTCA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	224	0.0045	50	c.30 others(61): Show c.3058_*3059insGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGGT GAGCGGGGTCCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2878		chr11	TogoVar
SIGIRR_chr11_400716_419999	402837	A A	ACCCCGGG others(43): Show ACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCCGGACCCCCGCTCA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	224	0.0045	50	c.30 others(61): Show c.3058_*3059insGTGAGCGGGGGTCCGGGGGTGAGCGGGGTCGGGG TGAGCGGGTCCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2878		chr11	TogoVar
SIGIRR_chr11_400716_419999	402843	G G	GGACCCGC others(43): Show GGACCCGCTCACCCCGACCCCCGCTCACACCCGGACCCCGCTCACCCCCG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0153 a0005c0012t0001g0153	1	236	0.0042	50	c.30 others(61): Show c.3052_*3053insGCGGGGGTGAGCGGGGTCCGGGTGTGAGCGGGGG TCGGGGTGAGCGGGTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2872		chr11	TogoVar
SIGIRR_chr11_400716_419999	402990	G G	GCCCCGCT others(43): Show GCCCCGCTCACCCCCCGGCCCCCGCTCACCCCCGCCCCGCTCACCCCCGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	240	0.0042	50	c.29 others(61): Show c.2905_*2906insTCCGGGGGTGAGCGGGGCGGGGGTGAGCGGGGGC CGGGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2725		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCCCG others(43): Show CCCCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCCGCCCCACTCAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0088 a0004c0007t0001g0088	1	152	0.0066	50	c.28 others(61): Show c.2880_*2881insTGTGAGTGGGGCGGGGGGTGAGCGGGGTCCGGGG TGAGCGGGGCGGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIK3_chr11_116838402_117103428	116917827	G G	GAAGGAAA others(43): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG03225.hp1 others(1): Show HG02809.hp2 HG03130.hp1 HG03225.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0138 a0001c0002t0004g0046 a0001c0002t0004g0049 others(1): Show a0001c0001t0003g0138 a0001c0002t0004g0046 a0001c0002t0004g0049 a0001c0002t0004g0053	4	37	0.1081	50	c.616 others(67): Show c.616+9391_616+9392insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	4/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATACATATATATATATATACACA C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01257.hp2 HG01934.hp2 others(5): Show HG00099.hp2 HG01257.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02683.hp2 HG02717.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0002c0003t0007 a0001c0001t0001 a0002c0003t0006 a0002c0003t0007	a0001c0001t0001g0360 a0002c0003t0006g0352 a0002c0003t0006g0354 others(5): Show a0001c0001t0001g0360 a0002c0003t0006g0352 a0002c0003t0006g0354 a0002c0003t0006g0359 a0002c0003t0007g0321 a0002c0003t0007g0323 a0002c0003t0007g0324 a0002c0003t0007g0358	8	236	0.0339	50	c.274 others(69): Show c.274-63183_274-63182insGTGTGTATATATATATATATGTATAT ATATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIMC1_chr5_176233424_176350989	176306031	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0351 a0002c0003t0001g0351	1	330	0.0030	50	c.173 others(69): Show c.1735-7660_1735-7659insGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	95	0.0105	50	c.47 others(61): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(43): Show TACATACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	95	0.0105	50	c.47 others(61): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(43): Show TACATACATACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	95	0.0105	50	c.47 others(61): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A6_chr4_86818468_86854384	86837300	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTA G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02056.hp2 HG00609.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0083 a0001c0001t0001g0101	2	339	0.0059	50	c.378 others(67): Show c.378-3877_378-3876insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTCCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837304	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTA G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02148.hp1 HG01516.hp2 HG01517.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0112	3	322	0.0093	50	c.378 others(67): Show c.378-3881_378-3880insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837308	A A	AGGAAGGA others(43): Show AGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGAGGAAGGAAGTA G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01978.hp2 NA18943.hp1 others(3): Show HG00642.hp1 HG01978.hp2 NA18943.hp1 NA18964.hp1 NA19070.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104	6	343	0.0175	50	c.378 others(67): Show c.378-3885_378-3884insCTACTTCCTTCCTCTTCCTCCCTCCCTC CCTCCCTTCCTTCCTTCCTTCC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar

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