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
SERPINB12_chr18_63537369_63574329	63559040	T T	TTCTTTCT others(33): Show TTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0080 a0003c0004t0006g0080	1	223	0.0045	40	c.304 others(55): Show c.304-523_304-522insCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 NA18978.hp2 HG00323.hp2 HG01123.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0096 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0096	3	379	0.0079	40	c.-17 others(59): Show c.-174+4511_-174+4512insTATATATATATATATATATATATATA TATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERTM1_chr13_36669020_36702839	36683779	A A	AGAATGGA others(33): Show AGAATGGAGCGGGCCCGGTGGCGGAGAGGGAGGAACGAGTG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	436	0.0023	40	c.-17 others(59): Show c.-174+9597_-174+9598insATGGAGCGGGCCCGGTGGCGGAGAGG GAGGAACGAGTGGA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESTD1_chr2_179096678_179269832	179185862	G G	GTTATATA others(33): Show GTTATATACAATATATAATATAGCATATACAATATAGTATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	272	0.0037	40	c.56- others(55): Show c.56-2714_56-2675dupTATACTATATTGTATATGCTATATTATATA TTGTATATAA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SESTD1_chr2_179096678_179269832	179185962	T T	TAGCATAT others(33): Show TAGCATATACAATATAGTATATTATATACAATATATAATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp1 HG06807.hp2 HG03130.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0120 a0001c0001t0017g0121 a0001c0001t0017g0122 a0001c0001t0017g0120 a0001c0001t0017g0121 a0001c0001t0017g0122	3	268	0.0112	40	c.56- others(55): Show c.56-2814_56-2775dupGTATTATATATTGTATATAATATACTATAT TGTATATGCT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	2/17			chr2	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19056.hp1 HG02895.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0035 a0001c0001t0001g0036	2	26	0.0769	40	c.676 others(57): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD6_chr16_58510517_58528842	58516124	T T	TGGGGCGG others(33): Show TGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0056	1	242	0.0041	40	c.335 others(53): Show c.335-50_335-49insGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC GGGGCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26244163	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19064.hp1 HG01943.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0125 a0001c0001t0005g0145 a0001c0001t0005g0125 a0001c0001t0005g0145	2	184	0.0109	40	c.95- others(57): Show c.95-48220_95-48219insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGGAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0096 a0002c0002t0017g0096	1	144	0.0069	40	c.240 others(57): Show c.2407+655_2407+656insGGAAGGAAGGGAGGAAAGAAAGAAAGAA AGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	12	0.0833	40	c.495 others(55): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31562983	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0319 a0006c0008t0001g0319	1	156	0.0064	40	c.765 others(57): Show c.765+1610_765+1611insATATATATATATATATATATATATATAT ATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(33): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18939.hp2 NA18960.hp2 HG01071.hp1 NA18939.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0250 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0250	3	120	0.0250	40	c.124 others(57): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02132.hp2 NA18967.hp2 others(1): Show HG02129.hp1 HG02132.hp2 NA18967.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0279	4	36	0.1111	40	c.240 others(59): Show c.2409-2641_2409-2640insTATATATATATATATATATATATATA TATATATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SGCD_chr5_156322164_156772788	156350247	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03490.hp2 NA19003.hp1 others(1): Show HG02809.hp2 HG03490.hp2 NA19003.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0015 a0001c0002t0024 others(1): Show a0001c0002t0005 a0001c0002t0015 a0001c0002t0024 a0001c0002t0061	a0001c0002t0005g0082 a0001c0002t0015g0086 a0001c0002t0024g0063 others(1): Show a0001c0002t0005g0082 a0001c0002t0015g0086 a0001c0002t0024g0063 a0001c0002t0061g0103	4	76	0.0526	40	c.192 others(57): Show c.192+5587_192+5588insATATATATATATATATATATATATATAT ATATATATATAT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCZ_chr8_14079845_15243431	14645478	T T	TTATATAT others(33): Show TTATATATATATATATATTTATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	76	0.0132	40	c.40- others(57): Show c.40-90553_40-90552insTAAATATATATATATATATATAAATATA TATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	15028318	G G	GAAGTTGA others(33): Show GAAGTTGAAGTCAGTTTCATAAGGAACACTATCGTCTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02897.hp1 others(1): Show HG02055.hp1 HG02451.hp1 HG02897.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0028 a0001c0001t0048 a0001c0001t0089 others(1): Show a0001c0001t0028 a0001c0001t0048 a0001c0001t0089 a0002c0002t0007	a0001c0001t0028g0006 a0001c0001t0048g0051 a0001c0001t0089g0050 others(1): Show a0001c0001t0028g0006 a0001c0001t0048g0051 a0001c0001t0089g0050 a0002c0002t0007g0048	4	100	0.0400	40	c.39+ others(59): Show c.39+209227_39+209266dupAGAAAGACGATAGTGTTCCTTATGAA ACTGACTTCAACTT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660011	A A	AAGGAAAG others(33): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0301 a0002c0002t0003g0301	1	216	0.0046	40	c.460 others(55): Show c.460-502_460-501insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGACAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18948.hp1 HG02083.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0034 a0001c0004t0001 a0001c0001t0034 a0001c0004t0001	a0001c0001t0034g0194 a0001c0004t0001g0064 a0001c0001t0034g0194 a0001c0004t0001g0064	2	140	0.0143	40	c.460 others(55): Show c.460-498_460-497insAAGAAAGAAAGACAGGAAGGAAGGAAGGAA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAAGAAGG others(33): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03927.hp1 NA18961.hp2 HG00438.hp1 HG03927.hp1 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0272 a0002c0002t0003g0287 a0002c0002t0003g0293 a0002c0002t0003g0272 a0002c0002t0003g0287 a0002c0002t0003g0293	3	141	0.0213	40	c.460 others(55): Show c.460-498_460-497insAAGAAGGAAAGAAAGAAAGAAAGAAAGACA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660015	A A	AAGGAAAG others(33): Show AAGGAAAGAAAGAAAGAAAGAAAGACAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01515.hp1 HG00597.hp2 HG01515.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0260 a0002c0002t0003g0294 a0002c0002t0003g0260 a0002c0002t0003g0294	2	140	0.0143	40	c.460 others(55): Show c.460-498_460-497insAGGAAAGAAAGAAAGAAAGAAAGACAGGAA GGAAGGAAGG	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24			chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	63	0.0159	40	c.286 others(59): Show c.286-25022_286-24983dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66720781	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp2 HG02809.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0011 a0001c0002t0006g0058 a0001c0002t0002g0011 a0001c0002t0006g0058	2	77	0.0260	40	c.-12 others(59): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATATATATA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
SGMS1_chr10_50300600_50628956	50574963	G G	GTATATAT others(33): Show GTATATATATATATATGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp2 HG02109.hp2 others(1): Show HG00423.hp2 HG01069.hp2 HG02109.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0002t0003g0220 others(1): Show a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0002t0003g0220 a0001c0002t0003g0227	4	25	0.1600	40	c.-58 others(61): Show c.-589+15189_-589+15190insTATATATATATATATATATATACA CATATATATATATATA	SGMS1	ENSG00000198964.14	transcript	ENST00000361781.7	protein_coding	2/10			chr10	TogoVar
SGSM1_chr22_24801211_24932578	24900377	T T	TTCTTTCT others(33): Show TTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0123 a0003c0003t0009g0123	1	336	0.0030	40	c.261 others(59): Show c.2611-1449_2611-1448insCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCT	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(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(17): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01106.hp1 HG01106.hp2 HG01346.hp2 HG01978.hp1 HG02165.hp2 HG04115.hp2 NA18612.hp2 NA18943.hp2 NA18949.hp1 NA18950.hp1 NA18965.hp2 NA18968.hp1 NA19064.hp1 NA19066.hp1 NA19081.hp2 NA19084.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0032 a0005c0008 others(1): Show a0001c0001 a0001c0032 a0005c0008 a0008c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0032t0001 a0005c0008t0003 a0008c0042t0001	a0001c0001t0001g0012 a0001c0001t0001g0175 a0001c0001t0001g0176 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0173 a0001c0001t0002g0385 a0001c0001t0007g0180 a0001c0032t0001g0185 a0005c0008t0003g0183 a0008c0042t0001g0174	20	185	0.1081	40	c.57+ others(55): Show c.57+1044_57+1045insTATATATATATATATATATATATATATATA TATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH2D1B_chr1_162390268_162417136	162416424	A A	AAGAAAAA others(33): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01070.hp1 HG01071.hp1 others(2): Show HG00609.hp2 HG01070.hp1 HG01071.hp1 HG01928.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0036 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0036	5	99	0.0505	40	c.-44 others(51): Show c.-4409_-4408insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding		4289		chr1	TogoVar
SH3BGR_chr21_39446970_39520504	39499255	C C	CATCTATC others(33): Show CATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	141	0.0071	40	c.313 others(55): Show c.313-564_313-563insATCTATCTATCTATCTATCTATCTATCTAT CTATCTATCT	SH3BGR	ENSG00000185437.16	transcript	ENST00000333634.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr21	TogoVar
SH3GL2_chr9_17574066_17802124	17622976	G G	GTTTCCTT others(33): Show GTTTCCTTTCCTTTCCTTTCCGTTCCGTTCCGTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	199	0.0050	40	c.45+ others(57): Show c.45+43698_45+43699insCTTTCCTTTCCGTTCCGTTCCGTTCCTT TCCTTTCCTTTC	SH3GL2	ENSG00000107295.10	transcript	ENST00000380607.5	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025611	G G	GAGGAAGG others(33): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01123.hp1 HG01168.hp2 others(18): Show HG00673.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02717.hp1 HG02735.hp1 HG03098.hp2 NA18747.hp2 NA18953.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0002t0006	a0001c0001t0002g0025 a0001c0001t0002g0093 a0001c0001t0002g0095 others(14): Show a0001c0001t0002g0025 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0003g0252 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0293 a0001c0002t0002g0094 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0006g0020 a0001c0002t0006g0042 a0001c0002t0006g0304	21	264	0.0795	40	c.63+ others(55): Show c.63+2480_63+2481insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025623	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG02074.hp1 others(4): Show HG00738.hp2 HG01243.hp1 HG02074.hp1 HG02074.hp2 HG02738.hp1 NA18946.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 others(4): Show a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061	7	419	0.0167	40	c.63+ others(55): Show c.63+2468_63+2469insGCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3GLB2_chr9_129002036_129033331	129025623	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0048 a0001c0002t0016g0048	1	413	0.0024	40	c.63+ others(55): Show c.63+2468_63+2469insGCCTGCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	SH3GLB2	ENSG00000148341.18	transcript	ENST00000372564.8	protein_coding	1/10			chr9	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp1 HG02622.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0056 a0001c0001t0003g0057	2	84	0.0238	40	c.4+1 others(55): Show c.4+13238_4+13239insATATATATATATATATATATATATATATTT TTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(33): Show AAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	83	0.0120	40	c.4+1 others(55): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp1 NA19056.hp1 HG02922.hp2 NA19030.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0001t0041 a0001c0003t0098 a0001c0001t0022 a0001c0001t0041 a0001c0003t0098	a0001c0001t0022g0110 a0001c0001t0041g0218 a0001c0003t0098g0179 a0001c0001t0022g0110 a0001c0001t0041g0218 a0001c0003t0098g0179	3	20	0.1500	40	c.73- others(53): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTATCTAT others(33): Show CTATCTATCTATCTATCTATCTATCTATCTATCCTATCTAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0073 a0001c0005t0073	a0001c0005t0073g0216 a0001c0005t0073g0216	1	232	0.0043	40	c.101 others(59): Show c.1013-1323_1013-1322insATAGATAGGATAGATAGATAGATAGA TAGATAGATAGATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109249647	C C	CTCTTTCT others(33): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp1 HG02258.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0028 a0001c0003t0020 a0001c0001t0028 a0001c0003t0020	a0001c0001t0028g0044 a0001c0003t0020g0077 a0001c0001t0028g0044 a0001c0003t0020g0077	2	168	0.0119	40	c.574 others(59): Show c.574-98007_574-98006insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(33): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19009.hp1 HG01069.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0118 a0001c0001t0021g0028 a0001c0001t0002g0118 a0001c0001t0021g0028	2	51	0.0392	40	c.214 others(59): Show c.2148+9112_2148+9113insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19084.hp1 HG01099.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0044 a0002c0001t0060 a0001c0003t0044 a0002c0001t0060	a0001c0003t0044g0011 a0002c0001t0060g0038 a0001c0003t0044g0011 a0002c0001t0060g0038	2	268	0.0075	40	c.196 others(59): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50713405	C C	CTGTTTTC others(33): Show CTGTTTTCAGGGTGTGTGTGGAGGGGCTCTATCTGGGGGCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	314	0.0032	40	c.792 others(55): Show c.792+353_792+392dupTGCCCCCAGATAGAGCCCCTCCACACACAC CCTGAAAACA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	6/23			chr19	TogoVar
SHC3_chr9_89000771_89183818	89182522	A A	AAAAATAA others(33): Show AAAAATAAAATAACATAAAATAACATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0001 a0001c0002t0006g0001	1	41	0.0244	40	c.-40 others(51): Show c.-4063_-4062insATTTTATTTTATTTTATGTTATTTTATGTTATTT TATTTT	SHC3	ENSG00000148082.10	transcript	ENST00000375835.9	protein_coding		3705		chr9	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	192	0.0052	40	c.657 others(59): Show c.657-17030_657-17029insTATATACACACACACACACATATATA TATATATACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(33): Show GTGTGTGTGTATATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	192	0.0052	40	c.657 others(59): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATATACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48907840	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTATATATATATATGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	192	0.0052	40	c.657 others(59): Show c.657-17030_657-17029insTATACACACACACACACATATATATA TATACACACACACA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	125	0.0080	40	c.118 others(59): Show c.1182+4906_1182+4945dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924786	A A	AAGAAAGA others(33): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	234	0.0043	40	c.118 others(59): Show c.1182+4860_1182+4861insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA5_chr3_48462876_48509174	48481441	A A	AAAAATAA others(33): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01884.hp1 HG02027.hp2 others(8): Show HG00609.hp1 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02630.hp1 HG03471.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0042 others(7): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0004g0019	11	215	0.0512	40	c.234 others(57): Show c.234-2185_234-2184insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13140138	T T	TCCCTCCC others(33): Show TCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0046 a0001c0001t0059g0046	1	134	0.0075	40	c.692 others(59): Show c.692-63217_692-63216insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02965.hp1 HG03491.hp2 others(8): Show HG00423.hp2 HG02965.hp1 HG03491.hp2 HG03492.hp2 NA18522.hp2 NA18951.hp1 NA18955.hp1 NA18981.hp2 NA19057.hp1 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0024 a0001c0001t0031 a0001c0002t0003 a0001c0002t0008	a0001c0001t0001g0145 a0001c0001t0001g0226 a0001c0001t0001g0285 others(7): Show a0001c0001t0001g0145 a0001c0001t0001g0226 a0001c0001t0001g0285 a0001c0001t0001g0347 a0001c0001t0008g0076 a0001c0001t0020g0159 a0001c0001t0024g0004 a0001c0001t0031g0124 a0001c0002t0003g0130 a0001c0002t0008g0091	11	115	0.0957	40	c.600 others(59): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0064 a0001c0002t0011g0235 a0001c0002t0011g0064 a0001c0002t0011g0235	2	34	0.0588	40	c.599 others(55): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGAAGGCAGGCA GGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(33): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0211 a0001c0002t0005g0211	1	33	0.0303	40	c.599 others(55): Show c.599+530_599+531insAAGGAAGGAAGGAAGGAAGGAAGGAAGGCA GGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar

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