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
SGSM1_chr22_24801211_24932578	24860897	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp1 HG01891.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0006 a0003c0003 a0001c0006 a0003c0003	a0001c0006t0035 a0003c0003t0029 a0001c0006t0035 a0003c0003t0029	a0001c0006t0035g0070 a0003c0003t0029g0121 a0001c0006t0035g0070 a0003c0003t0029g0121	2	227	0.0088	-13	c.926 others(30): Show c.926+1071_926+1083delAAAAAAAAAAAAA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860915	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01346.hp1 HG01496.hp1 others(4): Show HG00323.hp1 HG01346.hp1 HG01496.hp1 HG01993.hp1 HG02148.hp1 NA19009.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0028 a0002c0002t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0002g0109 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0008g0274 a0001c0001t0028g0034 a0002c0002t0001g0104	7	335	0.0209	-13	c.926 others(30): Show c.926+1077_926+1089delAAAAAAATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860917	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00741.hp2 others(29): Show HG00544.hp1 HG00673.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02015.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02615.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18945.hp1 NA18949.hp1 NA18960.hp1 NA18960.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA19077.hp1 NA19077.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0027 others(2): Show a0001c0001 a0001c0006 a0001c0027 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0006t0001 a0001c0027t0003 a0002c0002t0002 a0002c0002t0003 a0002c0011t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(29): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0001t0001g0131 a0001c0001t0001g0239 a0001c0001t0001g0259 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0091 a0001c0001t0002g0157 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0224 a0001c0001t0002g0265 a0001c0001t0006g0102 a0001c0001t0006g0218 a0001c0001t0006g0282 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0025g0032 a0001c0001t0026g0077 a0001c0001t0033g0272 a0001c0001t0034g0329 a0001c0001t0040g0321 a0001c0006t0001g0068 a0001c0027t0003g0099 a0002c0002t0002g0221 a0002c0002t0003g0101 a0002c0011t0001g0093	32	335	0.0955	-13	c.926 others(30): Show c.926+1079_926+1091delAAAAATATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24899021	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	77	0.0130	-13	c.261 others(30): Show c.2610+476_2610+488delAAAAAAAAAAAAA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM3_chr22_40365594_40415289	40376178	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0217 a0001c0001t0002g0218	2	14	0.1429	-13	c.-11 others(32): Show c.-112+5510_-112+5522delTTTTTTTTTTTTT	SGSM3	ENSG00000100359.21	transcript	ENST00000248929.14	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTA_chr19_2749715_2788273	2755593	GCTGAACG others(6): Show GCTGAACGTGAAAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 NA18612.hp2 HG01081.hp2 NA18612.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0102 a0001c0008t0009g0119 a0001c0008t0009g0102 a0001c0008t0009g0119	2	394	0.0051	-13	c.33 others(22): Show c.334_*346delGTTTCACGTTCAG	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	12/12	1737		chr19	TogoVar
SGTB_chr5_65660928_65727109	65723814	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02896.hp1 others(4): Show HG01109.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022	a0001c0001t0007g0010 a0001c0001t0007g0036 a0001c0001t0007g0037 others(3): Show a0001c0001t0007g0010 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0021g0034 a0001c0001t0022g0035	7	246	0.0285	-13	c.-19 others(24): Show c.-1933_-1921delTTTTTTTTTTTTT	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding		1706		chr5	TogoVar
SH2D4B_chr10_80532902_80651560	80572971	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0232 a0005c0005t0003g0232	1	319	0.0031	-13	c.495 others(30): Show c.495+1394_495+1406delATATATATATATA	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7			chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80572974	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0224 a0002c0002t0002g0224	1	306	0.0033	-13	c.495 others(30): Show c.495+1398_495+1410delATATATATATATT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80577261	AAGCCTTG others(6): Show AAGCCTTGGTTCTG	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	320	0.0031	-13	c.495 others(30): Show c.495+5684_495+5696delAGCCTTGGTTCTG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7			chr10	TogoVar
SH3BGRL2_chr6_79626329_79708655	79631682	GGGTGGGG others(6): Show GGGTGGGGGACCCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	346	0.0029	-13	c.45+ others(26): Show c.45+179_45+191delTGGGGGACCCCGG	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BP1_chr22_37634669_37661117	37653136	CAACAATA others(6): Show CAACAATAACAAAA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	410	0.0024	-13	c.159 others(30): Show c.1599-640_1599-628delCAATAACAAAAAA	SH3BP1	ENSG00000100092.24	transcript	ENST00000649765.2	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr22	TogoVar
SH3BP2_chr4_2788085_2846096	2810957	GCTGAAGG others(6): Show GCTGAAGGTGTGGT	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18983.hp1 NA19066.hp1 others(1): Show NA18945.hp1 NA18983.hp1 NA19066.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0012 a0001c0002t0003g0155 a0001c0002t0003g0012 a0001c0002t0003g0155	4	376	0.0106	-13	c.-4- others(28): Show c.-4-9653_-4-9641delAAGGTGTGGTCTG	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235038372	TATACATA others(6): Show TATACATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02486.hp1 HG03486.hp2 HG00597.hp1 HG02486.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0041 a0001c0002t0001g0230 a0001c0002t0004g0335 a0001c0002t0001g0041 a0001c0002t0001g0230 a0001c0002t0004g0335	3	337	0.0089	-13	c.119 others(30): Show c.119-2515_119-2503delATACATATATATA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235060673	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0273 a0002c0001t0001g0273	1	346	0.0029	-13	c.68 others(24): Show c.6858_*6870delAAAAAAAAAAAAG	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding		4960		chr2	TogoVar
SH3D19_chr4_151115281_151330605	151173382	ATAAAAAC others(6): Show ATAAAAACACTAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	280	0.0036	-13	c.153 others(32): Show c.1534+1275_1534+1287delCTTAGTGTTTTTA	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	7/19			chr4	TogoVar
SH3D19_chr4_151115281_151330605	151194016	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18967.hp1 NA19030.hp1 NA18941.hp2 NA18967.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0073 a0001c0001t0001g0142 a0003c0004t0001g0265 a0001c0001t0001g0073 a0001c0001t0001g0142 a0003c0004t0001g0265	3	41	0.0732	-13	c.153 others(30): Show c.153-6566_153-6554delAAAAAAAAAAAAA	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	2/19			chr4	TogoVar
SH3GL1_chr19_4355370_4405547	4372261	TCCCATGT others(6): Show TCCCATGTGCCAGC	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	356	0.0028	-13	c.46- others(28): Show c.46-5280_46-5268delGCTGGCACATGGG	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	1/9			chr19	TogoVar
SH3GL2_chr9_17574066_17802124	17758561	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	19	0.0526	-13	c.115 others(30): Show c.115-2854_115-2842delAAAAAAAAAAAAA	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GL3_chr15_83442341_83623743	83541312	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	37	0.0270	-13	c.46- others(30): Show c.46-17914_46-17902delTTTTTTTTTTTTT	SH3GL3	ENSG00000140600.17	transcript	ENST00000427482.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SH3GLB2_chr9_129002036_129033331	129028162	CCGCACGG others(6): Show CCGCACGGCCGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02965.hp2 others(1): Show HG01891.hp2 HG02055.hp1 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0299 a0001c0001t0009g0300 a0001c0001t0009g0041 a0001c0001t0009g0299 a0001c0001t0009g0300	4	434	0.0092	-13	c.-21 others(19): Show c.-21_-9delCGGCGGCCGTGCG	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/11	9		chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19567518	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0053 a0001c0006t0001g0053	1	68	0.0147	-13	c.138 others(32): Show c.1384+1572_1384+1584delTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	13/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19590809	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19000.hp1 NA18966.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0111 a0001c0001t0001g0122	2	87	0.0230	-13	c.113 others(32): Show c.1138+1245_1138+1257delAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	11/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19668959	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01192.hp1 HG01123.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0023 a0001c0001t0001g0028	2	202	0.0099	-13	c.726 others(32): Show c.726+14851_726+14863delTATATATATATAT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	6/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760010	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp2 HG01891.hp1 others(1): Show HG01070.hp2 HG01884.hp2 HG01891.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203	4	202	0.0198	-13	c.163 others(32): Show c.163-13582_163-13570delGAGAGAGAGAGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19766483	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18961.hp1 NA18948.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0128 a0001c0001t0001g0136	2	53	0.0377	-13	c.163 others(32): Show c.163-20055_163-20043delAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19773856	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01515.hp1 HG01517.hp2 others(1): Show HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027	4	126	0.0317	-13	c.163 others(32): Show c.163-27428_163-27416delTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19887601	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	19	0.0526	-13	c.-30 others(22): Show c.-304_-292delTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2		chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103615482	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA20805.hp1 NA20805.hp2 NA18949.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0007 a0001c0004 a0003c0007	a0001c0004t0020 a0001c0004t0082 a0003c0007t0083 a0001c0004t0020 a0001c0004t0082 a0003c0007t0083	a0001c0004t0020g0104 a0001c0004t0082g0237 a0003c0007t0083g0126 a0001c0004t0020g0104 a0001c0004t0082g0237 a0003c0007t0083g0126	3	248	0.0121	-13	c.920 others(30): Show c.920+1702_920+1714delACACACACACACC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	11/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103762014	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00558.hp1 others(71): Show HG00140.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01074.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG02055.hp2 HG02083.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03654.hp1 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18945.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0012	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0014 a0001c0016 a0001c0023 a0002c0006 a0003c0007 a0004c0011 a0007c0021 a0008c0025 a0010c0022 a0012c0015	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(52): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0063 a0001c0001t0081 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0106 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0036 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0073 a0001c0002t0115 a0001c0002t0120 a0001c0002t0121 a0001c0002t0122 a0001c0002t0125 a0001c0002t0128 a0001c0003t0015 a0001c0004t0001 a0001c0004t0010 a0001c0004t0013 a0001c0004t0053 a0001c0004t0085 a0001c0005t0007 a0001c0005t0046 a0001c0005t0117 a0001c0009t0088 a0001c0014t0006 a0001c0016t0084 a0001c0023t0021 a0002c0006t0003 a0003c0007t0001 a0003c0007t0083 a0004c0011t0108 a0004c0011t0110 a0004c0011t0111 a0007c0021t0124 a0008c0025t0003 a0010c0022t0102 a0012c0015t0086	a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0004g0052 others(71): Show a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0004g0052 a0001c0001t0014g0101 a0001c0001t0017g0010 a0001c0001t0022g0140 a0001c0001t0023g0149 a0001c0001t0024g0230 a0001c0001t0031g0079 a0001c0001t0042g0096 a0001c0001t0043g0193 a0001c0001t0043g0195 a0001c0001t0045g0094 a0001c0001t0045g0098 a0001c0001t0063g0016 a0001c0001t0081g0133 a0001c0001t0095g0121 a0001c0001t0097g0167 a0001c0001t0099g0203 a0001c0001t0106g0173 a0001c0002t0002g0017 a0001c0002t0002g0037 a0001c0002t0002g0068 a0001c0002t0008g0166 a0001c0002t0008g0180 a0001c0002t0009g0144 a0001c0002t0009g0176 a0001c0002t0012g0053 a0001c0002t0036g0026 a0001c0002t0048g0141 a0001c0002t0048g0165 a0001c0002t0049g0120 a0001c0002t0049g0188 a0001c0002t0050g0156 a0001c0002t0073g0014 a0001c0002t0115g0132 a0001c0002t0120g0122 a0001c0002t0121g0161 a0001c0002t0122g0217 a0001c0002t0125g0109 a0001c0002t0128g0134 a0001c0003t0015g0135 a0001c0003t0015g0136 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0146 a0001c0004t0010g0035 a0001c0004t0010g0077 a0001c0004t0013g0194 a0001c0004t0013g0201 a0001c0004t0053g0036 a0001c0004t0085g0224 a0001c0005t0007g0211 a0001c0005t0046g0164 a0001c0005t0117g0116 a0001c0009t0088g0091 a0001c0014t0006g0174 a0001c0016t0084g0129 a0001c0023t0021g0128 a0002c0006t0003g0127 a0003c0007t0001g0139 a0003c0007t0001g0145 a0003c0007t0001g0150 a0003c0007t0001g0157 a0003c0007t0001g0191 a0003c0007t0001g0202 a0003c0007t0083g0126 a0004c0011t0108g0225 a0004c0011t0110g0169 a0004c0011t0111g0226 a0007c0021t0124g0137 a0008c0025t0003g0152 a0010c0022t0102g0216 a0012c0015t0086g0151	74	136	0.5441	-13	c.229 others(30): Show c.229+5067_229+5079delAAAAAAAAAAAAA	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	3/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172416692	CTCTCTTT others(6): Show CTCTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03453.hp1 others(1): Show HG02055.hp1 HG02965.hp1 HG03453.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0034 a0002c0004t0010 a0001c0001t0002 a0001c0001t0034 a0002c0004t0010	a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0034g0007 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0034g0007 a0002c0004t0010g0035	4	268	0.0149	-13	c.156 others(30): Show c.156+5711_156+5723delAAAAAAAAAGAGA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	2/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172416694	CTCTTTTT others(6): Show CTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0038 a0007c0013t0038	a0007c0013t0038g0021 a0007c0013t0038g0021	1	269	0.0037	-13	c.156 others(30): Show c.156+5709_156+5721delAAAAAAAAAAAGA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	2/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172439263	ACAAAAAC others(6): Show ACAAAAACAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG03579.hp2 others(1): Show HG02258.hp1 HG02451.hp1 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0037 a0001c0001t0063 a0001c0003t0069 others(1): Show a0001c0001t0037 a0001c0001t0063 a0001c0003t0069 a0001c0005t0015	a0001c0001t0037g0013 a0001c0001t0063g0011 a0001c0003t0069g0213 others(1): Show a0001c0001t0037g0013 a0001c0001t0063g0011 a0001c0003t0069g0213 a0001c0005t0015g0012	4	271	0.0148	-13	c.75+ others(30): Show c.75+15002_75+15014delGTTTTTGTTTTTG	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	1/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169191215	ACGCAGAT others(6): Show ACGCAGATCAGTAG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	214	0.0047	-13	c.394 others(32): Show c.394-34549_394-34537delCTACTGATCTGCG	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF2_chr5_145931578_146068292	146022873	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0048 a0002c0023t0001g0048	1	269	0.0037	-13	c.105 others(32): Show c.1059+8814_1059+8826delACACACACACACA	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146033451	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	48	0.0208	-13	c.106 others(34): Show c.1060-14297_1060-14285delTTTTTTTTTTTTT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146044139	GTTTTTTT others(6): Show GTTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 NA19063.hp1 HG02109.hp2 HG02630.hp1 NA19063.hp1	a0001 a0005 a0001 a0005	a0001c0014 a0005c0004 a0001c0014 a0005c0004	a0001c0014t0002 a0005c0004t0002 a0001c0014t0002 a0005c0004t0002	a0001c0014t0002g0150 a0005c0004t0002g0200 a0005c0004t0002g0201 a0001c0014t0002g0150 a0005c0004t0002g0200 a0005c0004t0002g0201	3	184	0.0163	-13	c.106 others(32): Show c.1060-3623_1060-3611delGTTTTTTTTTTTT	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109266285	TTGTGTTG others(6): Show TTGTGTTGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03453.hp2 NA18906.hp2 others(1): Show HG02922.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0021	a0001c0001t0003 a0001c0003t0032 a0001c0005t0025 others(1): Show a0001c0001t0003 a0001c0003t0032 a0001c0005t0025 a0001c0021t0049	a0001c0001t0003g0134 a0001c0003t0032g0135 a0001c0005t0025g0146 others(1): Show a0001c0001t0003g0134 a0001c0003t0032g0135 a0001c0005t0025g0146 a0001c0021t0049g0138	4	172	0.0233	-13	c.574 others(32): Show c.574-81376_574-81364delATGTGTTGTGTGT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50707886	CTTTTCTT others(6): Show CTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	310	0.0032	-13	c.107 others(32): Show c.1078-3385_1078-3373delAAAGAAAAGAAAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50707888	TTTCTTTT others(6): Show TTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0098 a0001c0002t0009g0098	1	298	0.0034	-13	c.107 others(32): Show c.1078-3387_1078-3375delGAAAAGAAAAGAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHB_chr9_37910898_38074227	37946906	CACTTGAG others(6): Show CACTTGAGTCCTGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	328	0.0030	-13	c.134 others(32): Show c.1346+1716_1346+1728delACAGGACTCAAGT	SHB	ENSG00000107338.10	transcript	ENST00000377707.4	protein_coding	5/5			chr9	TogoVar
SHC3_chr9_89000771_89183818	89059084	ATGGAGGA others(6): Show ATGGAGGATGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	186	0.0054	-13	c.835 others(30): Show c.835+6432_835+6444delCCACCATCCTCCA	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89059321	TGTGGAGG others(6): Show TGTGGAGGATGGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02683.hp1 HG01255.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0165 a0001c0002t0002g0139 a0001c0002t0002g0165	2	186	0.0108	-13	c.835 others(30): Show c.835+6195_835+6207delCACCATCCTCCAC	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89059843	TGTGGTGG others(6): Show TGTGGTGGAGGATG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01071.hp2 others(11): Show HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01993.hp1 HG02148.hp2 HG02300.hp1 HG03209.hp2 HG03704.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0010	a0001c0001t0004g0068 a0001c0003t0001g0009 a0001c0003t0001g0012 others(10): Show a0001c0001t0004g0068 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0002g0002 a0001c0003t0002g0019 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0014 a0001c0003t0004g0021 a0001c0003t0010g0010	14	185	0.0757	-13	c.835 others(30): Show c.835+5673_835+5685delCATCCTCCACCAC	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHC3_chr9_89000771_89183818	89060131	CGTGGTGG others(6): Show CGTGGTGGAGGGCG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03540.hp1 HG01952.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0025 a0001c0001t0003 a0001c0002t0025	a0001c0001t0003g0114 a0001c0002t0025g0063 a0001c0001t0003g0114 a0001c0002t0025g0063	2	186	0.0108	-13	c.835 others(30): Show c.835+5385_835+5397delCGCCCTCCACCAC	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding	6/11			chr9	TogoVar
SHC4_chr15_48818741_48968919	48848014	AAAACAAA others(6): Show AAAACAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(10): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG02056.hp2 HG02132.hp1 NA18612.hp2 NA18949.hp1 NA18966.hp1 NA18968.hp2 NA18983.hp1 NA19000.hp2 NA19058.hp2 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0013 others(1): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0013 a0002c0003t0027	a0002c0003t0001g0095 a0002c0003t0003g0111 a0002c0003t0003g0170 others(10): Show a0002c0003t0001g0095 a0002c0003t0003g0111 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0003t0003g0185 a0002c0003t0003g0187 a0002c0003t0003g0240 a0002c0003t0003g0264 a0002c0003t0003g0294 a0002c0003t0003g0304 a0002c0003t0003g0357 a0002c0003t0013g0380 a0002c0003t0027g0378	13	382	0.0340	-13	c.130 others(32): Show c.1303+3161_1303+3173delGTTTTTTTTGTTT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	9/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48864436	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0104 a0007c0008t0004g0104	1	73	0.0137	-13	c.946 others(30): Show c.946+3369_946+3381delAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	6/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182901753	AATGCTGC others(6): Show AATGCTGCTGGTCC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	300	0.0033	-13	c.171 others(32): Show c.1710+1273_1710+1285delGGACCAGCAGCAT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	9/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924696	GAAAGGAA others(6): Show GAAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG03098.hp1 others(3): Show HG01884.hp2 HG02486.hp1 HG03098.hp1 NA18942.hp2 NA18992.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0002c0002t0001g0005 a0002c0002t0001g0014 a0002c0002t0001g0015	6	260	0.0231	-13	c.118 others(32): Show c.1182+4938_1182+4950delTCTTTCTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952190	AAATATAT others(6): Show AAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02055.hp2 others(3): Show HG00558.hp1 HG01433.hp1 HG02055.hp2 HG02280.hp2 HG02970.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0196 others(3): Show a0001c0001t0001g0176 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0243 a0001c0001t0001g0244	6	282	0.0213	-13	c.405 others(28): Show c.405+526_405+538delATATATATATATT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar

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