Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SGPP2_chr2_222419543_222567621	222435042	A A	ATATATAC others(17): Show ATATATACACATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	270	0.0037	24	c.219 others(43): Show c.219+10227_219+10228insCACATATATATATGTGTGTATATA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM1_chr22_24801211_24932578	24822088	C C	CTCTTTTT others(17): Show CTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp1 HG02148.hp2 others(1): Show HG01261.hp1 HG01993.hp1 HG02148.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0001t0001g0113	4	77	0.0519	24	c.63+ others(41): Show c.63+15605_63+15606insCTTTTTTTTTTTTTTTTTTTTTTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24845941	T T	TTTTCTTT others(17): Show TTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18991.hp1 HG02056.hp2 NA18991.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0005 a0001c0004t0002 a0001c0004t0005	a0001c0004t0002g0088 a0001c0004t0005g0172 a0001c0004t0002g0088 a0001c0004t0005g0172	2	121	0.0165	24	c.139 others(39): Show c.139+976_139+977insTCTTTTCTTTTCTTTTCTTTCTTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24845959	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0040 a0006c0040	a0006c0040t0012 a0006c0040t0012	a0006c0040t0012g0304 a0006c0040t0012g0304	1	330	0.0030	24	c.139 others(41): Show c.139+1006_139+1007insCTCTCTCTTTCTTTCTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24900340	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	162	0.0062	24	c.261 others(43): Show c.2611-1448_2611-1425dupTTCTTTCTTTCTTTCTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00738.hp2 others(3): Show HG00140.hp1 HG00639.hp2 HG00738.hp2 HG02055.hp1 NA18964.hp2 NA19000.hp2	a0001 a0009 a0013 a0001 a0009 a0013	a0001c0001 a0009c0014 a0013c0030 a0001c0001 a0009c0014 a0013c0030	a0001c0001t0001 a0009c0014t0001 a0013c0030t0024 a0001c0001t0001 a0009c0014t0001 a0013c0030t0024	a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0009c0014t0001g0141 a0013c0030t0024g0145	6	171	0.0351	24	c.57+ others(39): Show c.57+1044_57+1045insTATATATATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2377498	A A	ACGAAAAA others(17): Show ACGAAAAAAAAGAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01361.hp1 HG01943.hp2 others(41): Show HG01123.hp2 HG01361.hp1 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02258.hp1 HG02486.hp1 HG02622.hp1 HG02698.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18966.hp1 NA18970.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19060.hp2 NA19063.hp1 NA19067.hp1 NA19072.hp2 NA19080.hp2 NA19085.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0026	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0007c0009 a0026c0036	a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 others(4): Show a0001c0001t0002 a0001c0003t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0014 a0007c0009t0002 a0026c0036t0002	a0001c0001t0002g0023 a0001c0001t0002g0153 a0001c0001t0002g0154 others(39): Show a0001c0001t0002g0023 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0196 a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0247 a0001c0001t0002g0253 a0001c0001t0002g0269 a0001c0001t0002g0380 a0001c0003t0002g0011 a0001c0003t0002g0095 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0104 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0115 a0001c0003t0002g0125 a0001c0003t0002g0202 a0001c0003t0002g0215 a0001c0003t0002g0250 a0001c0003t0002g0378 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0002g0099 a0002c0002t0002g0116 a0002c0002t0002g0339 a0002c0002t0004g0162 a0002c0002t0004g0336 a0002c0002t0004g0337 a0002c0002t0004g0338 a0002c0002t0014g0340 a0007c0009t0002g0375 a0007c0009t0002g0379 a0026c0036t0002g0209	44	416	0.1058	24	c.280 others(41): Show c.2803-359_2803-358insCGAAAAAAAAGAAAAAAAAAAAAC	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	21/23			chr17	TogoVar
SGTA_chr19_2749715_2788273	2769809	T T	TGACACCC others(17): Show TGACACCCTCCTGGTTCCCCCAGCG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0145 a0001c0003t0003g0145	1	394	0.0025	24	c.-23 others(39): Show c.-23-742_-23-719dupCGCTGGGGGAACCAGGAGGGTGTC	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01175.hp2 others(31): Show HG00423.hp1 HG00673.hp1 HG01175.hp2 HG01256.hp2 HG01496.hp2 HG02027.hp1 HG02132.hp1 HG02145.hp1 HG02523.hp1 HG02698.hp1 HG02698.hp2 HG03041.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp2 NA18995.hp2 NA19000.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19084.hp2 NA19088.hp1 NA20905.hp2	a0001 a0004 a0011 others(1): Show a0001 a0004 a0011 a0012	a0001c0001 a0004c0004 a0011c0017 others(1): Show a0001c0001 a0004c0004 a0011c0017 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0011c0017t0001 a0012c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0155 a0001c0001t0001g0156 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0278 a0001c0001t0001g0340 a0001c0001t0002g0105 a0001c0001t0002g0140 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0243 a0004c0004t0001g0250 a0011c0017t0001g0192 a0012c0015t0001g0157	34	126	0.2698	24	c.-29 others(41): Show c.-29-1306_-29-1305insTTTTTTTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2B2_chr7_102281868_102326711	102320527	G G	GTGATTAC others(17): Show GTGATTACTCAAGAAGACTTCCCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02895.hp2 others(3): Show HG01884.hp1 HG02622.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0022 others(3): Show a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0146 a0002c0002t0002g0037 a0003c0003t0002g0025	6	404	0.0149	24	c.156 others(39): Show c.1567+41_1567+64dupACTTCCCGTTGATTACTCAAGAAG	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2B3_chr12_111400923_111456623	111417460	T T	TTTTATTT others(17): Show TTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02145.hp2 NA18945.hp1 others(4): Show HG00558.hp1 HG02145.hp2 NA18945.hp1 NA18947.hp1 NA18968.hp2 NA19066.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0021 a0001c0001t0002 a0001c0001t0017 a0001c0001t0021	a0001c0001t0002g0017 a0001c0001t0002g0123 a0001c0001t0002g0131 others(4): Show a0001c0001t0002g0017 a0001c0001t0002g0123 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0017g0017 a0001c0001t0021g0130	7	200	0.0350	24	c.-27 others(39): Show c.-27-651_-27-628dupATTTATTTATTTATTTATTTATTT	SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH2D1A_chrX_124341563_124378160	124375177	C C	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	92	0.0109	24	c.37 others(35): Show c.3786_*3787insTCTCTCTATATATATATATATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2018		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375177	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	92	0.0109	24	c.37 others(35): Show c.3786_*3787insTCTCTCTCTATATATATATATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2018		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TACATATA others(17): Show TACATATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	254	0.0039	24	c.38 others(35): Show c.3811_*3812insACATATATACACACACACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TATACATA others(17): Show TATACATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	254	0.0039	24	c.38 others(35): Show c.3811_*3812insATACATATATACACACACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375202	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	254	0.0039	24	c.38 others(35): Show c.3811_*3812insATATATATATATATATACACACAC	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2043		chrX	TogoVar
SH2D1B_chr1_162390268_162417136	162392171	A A	AAAAGAAG others(17): Show AAAAGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG04228.hp1 NA20752.hp2 HG03017.hp1 HG04228.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0002c0002t0001 a0001c0001t0016 a0002c0002t0001	a0001c0001t0016g0086 a0002c0002t0001g0025 a0002c0002t0001g0139 a0001c0001t0016g0086 a0002c0002t0001g0025 a0002c0002t0001g0139	3	67	0.0448	24	c.51 others(35): Show c.5108_*5109insCCTTCCTTCCTTCCTTCCTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		3096		chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162400286	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	202	0.0050	24	c.199 others(41): Show c.199-1200_199-1199insAAAAAAAAAAAAAAAAAAAAAAAA	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	2/3			chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162416268	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	318	0.0031	24	c.-42 others(35): Show c.-4253_-4252insCCTTCCTTCCTTCCTTCCTTCCTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4133		chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA18906.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0120 a0001c0001t0002g0123	2	96	0.0208	24	c.-44 others(35): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(17): Show AAGAAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG00741.hp1 others(20): Show HG00642.hp2 HG00733.hp1 HG00741.hp1 HG01074.hp1 HG01515.hp1 HG01934.hp1 HG02004.hp1 HG02165.hp1 HG02258.hp1 HG02559.hp1 HG02976.hp2 HG03579.hp1 HG04204.hp2 NA18965.hp2 NA18974.hp2 NA18977.hp1 NA18988.hp2 NA18997.hp1 NA18999.hp1 NA19009.hp1 NA19009.hp2 NA19070.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0016 others(9): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0154	23	117	0.1966	24	c.-44 others(35): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01496.hp1 HG01978.hp2 others(13): Show HG01071.hp1 HG01496.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02132.hp2 HG02273.hp2 HG03225.hp2 HG03579.hp1 HG04184.hp2 NA18945.hp1 NA18947.hp1 NA18986.hp2 NA19000.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0005g0038 a0001c0001t0006g0102	16	77	0.2078	24	c.-36 others(33): Show c.-363_-340dupGAGAGAGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127757645	G G	GATTATTA others(17): Show GATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	35	0.0286	24	c.555 others(41): Show c.555+3942_555+3965dupAATAATAATAATAATAATAATAAT	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11			chr9	TogoVar
SH2D4A_chr8_19308693_19401218	19373455	T T	TATATATA others(17): Show TATATATATATATATACACACACCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG03453.hp2 HG02630.hp1 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0049 a0001c0003t0003g0066 a0001c0003t0003g0181 a0001c0001t0011g0049 a0001c0003t0003g0066 a0001c0003t0003g0181	3	331	0.0091	24	c.918 others(37): Show c.918-65_918-64insATATACACACACCCATATATATAT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D7_chr15_78087561_78109362	78089517	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG02698.hp2 HG03704.hp1 others(6): Show HG01168.hp2 HG02698.hp2 HG03704.hp1 NA18950.hp2 NA18959.hp2 NA18977.hp2 NA19004.hp2 NA19074.hp2 NA19087.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0002c0002t0001g0004 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0030 a0002c0002t0001g0004 a0003c0003t0001g0033	9	262	0.0344	24	c.-30 others(35): Show c.-3068_-3067insTTTTTTTTTTTTTTTTTTTTTTTT	SH2D7	ENSG00000183476.13	transcript	ENST00000328828.6	protein_coding		3043		chr15	TogoVar
SH3BGRL2_chr6_79626329_79708655	79648255	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	79	0.0127	24	c.45+ others(41): Show c.45+16754_45+16777dupATATATATATATATATATATATAT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282328	A A	AGGGACTG others(17): Show AGGGACTGGGGCCGGGACCGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(83): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG01168.hp1 HG01192.hp2 HG01943.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02630.hp2 HG02723.hp2 HG02965.hp1 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18989.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp1 NA19084.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0005g0001 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0005g0001	86	378	0.2275	24	c.12 others(35): Show c.1205_*1206insGGGACTGGGGCCGGGACCGGGACC	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		807		chr1	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282382	T T	TGGGGCCG others(17): Show TGGGGCCGGGACCGGGACCGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	24	c.12 others(35): Show c.1259_*1260insGGGGCCGGGACCGGGACCGGGACC	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		861		chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39499255	C C	CATCTATC others(17): Show CATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(50): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp2 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01981.hp1 HG02040.hp1 HG02080.hp1 HG02257.hp2 HG02293.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp1 HG04228.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18982.hp2 NA18984.hp1 NA18998.hp2 NA19011.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0034 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0279 a0001c0001t0002g0246 a0001c0001t0009g0089 a0001c0001t0011g0078	53	193	0.2746	24	c.313 others(39): Show c.313-564_313-563insATCTATCTATCTATCTATCTATCT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BGR_chr21_39446970_39520504	39499258	C C	CTATCTAT others(17): Show CTATCTATCTATCTATCTATCTATG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	300	0.0033	24	c.313 others(39): Show c.313-564_313-563insATCTATCTATCTATCTATCTATGT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BGR_chr21_39446970_39520504	39499272	A A	ATCTATCT others(17): Show ATCTATCTATCTATCTATCTATCTG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	299	0.0033	24	c.313 others(39): Show c.313-542_313-541insCTATCTATCTATCTGTCTATCTAT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3BP4_chr2_234947017_235060714	234951942	G G	GCGCCCCC others(17): Show GCGCCCCCGCCCCCGCCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	99	0.0101	24	c.-43 others(33): Show c.-435_-434insCGCCCCCGCCCCCGCCCCCGCCCC	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding		74		chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235010834	C C	CCTAGGAG others(17): Show CCTAGGAGAGCCCTTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03688.hp1 others(1): Show HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0002c0001t0007 a0001c0002t0002 a0002c0001t0002 a0002c0001t0007	a0001c0002t0002g0263 a0002c0001t0002g0265 a0002c0001t0002g0266 others(1): Show a0001c0002t0002g0263 a0002c0001t0002g0265 a0002c0001t0002g0266 a0002c0001t0007g0262	4	345	0.0116	24	c.-13 others(45): Show c.-133+15466_-133+15467insGCCCTTCCTCCCTCTTCTAGGAGA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235011102	A A	ACTCTCCT others(17): Show ACTCTCCTAGGAGAACCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0088 a0001c0013t0010g0088	1	108	0.0093	24	c.-13 others(45): Show c.-133+15808_-133+15831dupGAGAACCCTTCCTCCCTCTCCTAG	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036737	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0043 a0001c0004t0002g0043	1	342	0.0029	24	c.118 others(41): Show c.118+1619_118+1620insTAATAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03130.hp1 HG03209.hp1 others(2): Show HG01346.hp2 HG03130.hp1 HG03209.hp1 HG04204.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0143 a0001c0002t0002g0251 a0001c0002t0003g0027 others(2): Show a0001c0002t0001g0143 a0001c0002t0002g0251 a0001c0002t0003g0027 a0001c0002t0003g0195 a0001c0002t0003g0256	5	69	0.0725	24	c.118 others(41): Show c.118+1622_118+1623insAAAAAAAAAAAAAAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp1 HG02040.hp1 others(4): Show HG01099.hp1 HG01358.hp1 HG02040.hp1 HG02129.hp1 NA18942.hp1 NA19043.hp1 NA19057.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0008 a0010c0026 a0001c0002 a0001c0008 a0010c0026	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0008t0001 a0010c0026t0002	a0001c0002t0001g0020 a0001c0002t0001g0176 a0001c0002t0001g0260 others(4): Show a0001c0002t0001g0020 a0001c0002t0001g0176 a0001c0002t0001g0260 a0001c0002t0003g0145 a0001c0002t0009g0177 a0001c0008t0001g0057 a0010c0026t0002g0166	7	71	0.0986	24	c.118 others(41): Show c.118+1622_118+1623insAAAAAAAAAAAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0039 a0001c0002t0016g0039	1	65	0.0154	24	c.118 others(41): Show c.118+1622_118+1623insAAAAAAAAATAAAAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(64): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp2 HG02683.hp1 HG02698.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp2 NA18747.hp2 NA18941.hp1 NA18947.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19057.hp2 NA19074.hp1 NA19079.hp2 NA19090.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0006 a0001c0008 others(4): Show a0001c0002 a0001c0006 a0001c0008 a0001c0012 a0001c0022 a0003c0007 a0006c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0001c0022t0002 a0003c0007t0001 a0003c0007t0002 a0006c0014t0001	a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0037 others(63): Show a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0037 a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0080 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0115 a0001c0002t0001g0120 a0001c0002t0001g0141 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0200 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0243 a0001c0002t0001g0254 a0001c0002t0001g0264 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0288 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0302 a0001c0002t0001g0311 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0325 a0001c0002t0002g0152 a0001c0002t0002g0217 a0001c0002t0002g0228 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0003g0076 a0001c0002t0003g0083 a0001c0002t0003g0134 a0001c0002t0003g0197 a0001c0002t0003g0235 a0001c0002t0003g0300 a0001c0002t0003g0313 a0001c0002t0003g0341 a0001c0006t0001g0095 a0001c0006t0001g0107 a0001c0006t0001g0144 a0001c0006t0001g0204 a0001c0006t0001g0296 a0001c0008t0001g0108 a0001c0012t0001g0001 a0001c0022t0002g0295 a0003c0007t0001g0154 a0003c0007t0001g0181 a0003c0007t0002g0149 a0003c0007t0002g0150 a0006c0014t0001g0289	67	131	0.5115	24	c.118 others(41): Show c.118+1622_118+1623insAAAAAAAAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(17): Show AAAAAAAAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01346.hp1 others(14): Show HG00735.hp1 HG01074.hp1 HG01346.hp1 HG02258.hp1 HG02683.hp2 HG02976.hp1 HG03225.hp1 HG03491.hp1 HG03492.hp2 NA18959.hp2 NA18971.hp1 NA18977.hp2 NA19054.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0023 a0001c0024 a0001c0002 a0001c0023 a0001c0024	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0023t0003 a0001c0024t0001	a0001c0002t0001g0004 a0001c0002t0001g0090 a0001c0002t0001g0094 others(13): Show a0001c0002t0001g0004 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0002g0193 a0001c0002t0002g0255 a0001c0002t0003g0066 a0001c0002t0003g0079 a0001c0002t0003g0086 a0001c0002t0003g0132 a0001c0002t0004g0046 a0001c0002t0004g0202 a0001c0002t0004g0305 a0001c0023t0003g0024 a0001c0024t0001g0049	17	81	0.2099	24	c.118 others(41): Show c.118+1622_118+1623insAAAAAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAATA others(17): Show AAAAAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG02155.hp1 HG00609.hp2 HG00621.hp1 HG02155.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0014 a0001c0002 a0006c0014	a0001c0002t0001 a0001c0002t0003 a0006c0014t0002 a0001c0002t0001 a0001c0002t0003 a0006c0014t0002	a0001c0002t0001g0170 a0001c0002t0003g0075 a0006c0014t0002g0179 a0001c0002t0001g0170 a0001c0002t0003g0075 a0006c0014t0002g0179	3	67	0.0448	24	c.118 others(41): Show c.118+1622_118+1623insAAATAATAATAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 NA19030.hp2 HG01891.hp1 HG02258.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0020 a0003c0021 a0001c0008 a0003c0020 a0003c0021	a0001c0008t0001 a0003c0020t0002 a0003c0021t0017 a0001c0008t0001 a0003c0020t0002 a0003c0021t0017	a0001c0008t0001g0014 a0003c0020t0002g0040 a0003c0021t0017g0146 a0001c0008t0001g0014 a0003c0020t0002g0040 a0003c0021t0017g0146	3	67	0.0448	24	c.118 others(41): Show c.118+1638_118+1639insAATAATAATAATAATAATAATAAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5L_chr1_248805446_248830915	248823383	A A	ATGAAGAA others(17): Show ATGAAGAAACTGAGGCTCAGAAACG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0007 a0001c0001t0019	a0001c0001t0007g0018 a0001c0001t0007g0175 a0001c0001t0019g0176 a0001c0001t0007g0018 a0001c0001t0007g0175 a0001c0001t0019g0176	6	410	0.0146	24	c.183 others(41): Show c.183+1346_183+1369dupCGTTTCTGAGCCTCAGTTTCTTCA	SH3BP5L	ENSG00000175137.11	transcript	ENST00000366472.6	protein_coding	2/6			chr1	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01981.hp2 HG03209.hp2 others(5): Show HG01943.hp2 HG01981.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 NA18968.hp2 NA19030.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008	a0001c0001t0001g0226 a0001c0001t0002g0016 a0001c0001t0003g0133 others(5): Show a0001c0001t0001g0226 a0001c0001t0002g0016 a0001c0001t0003g0133 a0001c0002t0001g0356 a0001c0002t0002g0065 a0001c0002t0006g0342 a0001c0002t0006g0343 a0001c0002t0008g0105	8	29	0.2759	24	c.496 others(41): Show c.496-3247_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320605	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01496.hp1 others(7): Show HG01099.hp2 HG01109.hp1 HG01496.hp1 HG01516.hp2 HG02523.hp1 HG02698.hp1 NA18947.hp2 NA18956.hp2 NA18981.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0308 others(7): Show a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0003g0125 a0001c0002t0001g0200 a0001c0002t0001g0239 a0001c0002t0001g0281 a0001c0002t0001g0307 a0001c0002t0001g0351	10	109	0.0917	24	c.201 others(41): Show c.201+9875_201+9898dupGTGTGTGTGTGTGTGTGTGTGTGT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3D19_chr4_151115281_151330605	151150242	T T	TATATATA others(17): Show TATATATATACACACATATATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	280	0.0036	24	c.175 others(41): Show c.1756-705_1756-682dupGTATATATATGTGTGTATATATAT	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	9/19			chr4	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(17): Show GGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00735.hp1 others(20): Show HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01081.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG01978.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG04115.hp1 NA18943.hp1 NA18954.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0012	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0002t0010 a0002c0003t0003 a0004c0012t0001	a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0048 others(20): Show a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0140 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0014g0051 a0001c0002t0001g0216 a0001c0002t0001g0237 a0001c0002t0010g0068 a0002c0003t0003g0128 a0004c0012t0001g0116	23	127	0.1811	24	c.113 others(43): Show c.113-29951_113-29928dupTCTCCCTCTCCCTCTCCCTCTCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3D21_chr1_36301368_36326347	36313327	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04199.hp1 HG02055.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0093 a0001c0002t0001g0115 a0001c0001t0001g0093 a0001c0002t0001g0115	2	36	0.0556	24	c.769 others(41): Show c.769+3743_769+3766dupATAAATAAATAAATAAATAAATAA	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00733.hp2 others(20): Show HG00140.hp1 HG00544.hp2 HG00733.hp2 HG01167.hp2 HG01516.hp1 HG01517.hp1 HG02074.hp2 HG02257.hp2 HG02698.hp1 HG02886.hp1 HG03017.hp1 HG03490.hp2 HG03654.hp1 HG03927.hp2 NA18971.hp1 NA18981.hp2 NA19055.hp2 NA19072.hp1 NA19072.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0181 a0001c0002t0001g0028 a0001c0002t0001g0046 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0214 a0001c0002t0001g0219	23	54	0.4259	24	c.769 others(41): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL1_chr19_4355370_4405547	4364866	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0274 a0001c0001t0005g0274	1	44	0.0227	24	c.331 others(39): Show c.331+592_331+615dupCACACACACACACACACACACACA	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	4/9			chr19	TogoVar

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