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
RSPO4_chr20_953452_1007311	959082	C C	CGAGTGTG others(37): Show CGAGTGTGGTGGTGGGTGTGGGGGAGTGTGGTGGTGGGTGTGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG01109.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0050 a0001c0001t0040 a0001c0001t0050	a0001c0001t0040g0285 a0001c0001t0050g0232 a0001c0001t0040g0285 a0001c0001t0050g0232	2	344	0.0058	44	c.12 others(55): Show c.1231_*1274dupCCCCACACCCACCACCACACTCCCCCACACCCAC CACCACACTC	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	5/5	1274		chr20	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0207 a0001c0001t0011g0207	1	78	0.0128	44	c.321 others(59): Show c.321-491_321-490insATATATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTATATGT others(37): Show TTATATGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0020 a0001c0001t0021g0020	1	78	0.0128	44	c.321 others(59): Show c.321-505_321-504insGTATATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158202562	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02809.hp1 others(1): Show HG02280.hp2 HG02572.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0217 a0001c0001t0002g0007 a0001c0001t0002g0021 others(1): Show a0001c0001t0001g0217 a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0022	4	81	0.0494	44	c.321 others(59): Show c.321-509_321-508insTTATATATATATATATATATATATATATAT ATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158477798	T T	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01258.hp2 HG03831.hp1 others(2): Show HG01123.hp2 HG01258.hp2 HG03831.hp1 NA19004.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0244 a0001c0001t0002g0103 a0001c0001t0002g0240 others(2): Show a0001c0001t0001g0244 a0001c0001t0002g0103 a0001c0001t0002g0240 a0001c0001t0007g0167 a0001c0001t0011g0209	5	25	0.2000	44	c.652 others(63): Show c.652+16796_652+16797insTTATATATATATATATATATATATAT ATATATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59606125	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp2 HG01433.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0079 a0001c0001t0001g0100	2	138	0.0145	44	c.197 others(61): Show c.1974-620_1974-619insTTATATATATATATATATATATATATAT ATATATATATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	4/8			chr14	TogoVar
RUNDC3B_chr7_87623398_87837296	87626511	T T	TATATATG others(37): Show TATATATGTCATATATGTGTCATATATATGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0171 a0001c0001t0018g0171	1	193	0.0052	44	c.-23 others(55): Show c.-2313_-2312insATATATGTCATATATGTGTCATATATATGTCATA TATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1886		chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92034755	T T	TACACACA others(37): Show TACACACATATACATATATATACACATATATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0049 a0001c0001t0062g0049	1	130	0.0077	44	c.89- others(61): Show c.89-17436_89-17393dupGTATATATGTATATATATATGTGTATAT ATATGTATATGTGTGT	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34849271	A A	ATATATAT others(37): Show ATATATATATAATATATATTATATATATTTTTATATATAAAAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(33): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03834.hp1 NA18747.hp1 NA18957.hp1 NA18957.hp2 NA18983.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0002t0003 a0001c0002t0006 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0158 a0001c0001t0012g0087 a0001c0001t0017g0098 a0001c0001t0020g0070 a0001c0002t0003g0120 a0001c0002t0006g0111 a0003c0004t0001g0164	36	168	0.2143	44	c.613 others(63): Show c.613+10202_613+10203insATTTTTTATATATAAAAATATATATA ATATATATTATATATATA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
RXFP1_chr4_158516882_158658372	158626120	A A	ATAGATAG others(37): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	208	0.0048	44	c.756 others(59): Show c.756-657_756-656insTTAGATAGATAGATAGATAGATAGATAGAT AGATAGATAGATAG	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR2_chr1_237037184_237838988	237406210	T T	TTCCCCTC others(37): Show TTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCTTTCCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0064 a0001c0011t0004g0064	1	83	0.0120	44	c.774 others(63): Show c.774-10820_774-10819insTTCCCCTCCCCTCCCCTCCTTTCCCT CCCCTCCCCTCCCCTCCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TTATATAT others(37): Show TTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0026 a0001c0001t0035g0026	1	52	0.0192	44	c.774 others(61): Show c.774-8643_774-8642insTATATATATATATATATATATATATATA TATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(37): Show GTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0013 a0004c0034t0013	a0004c0034t0013g0043 a0004c0034t0013g0043	1	14	0.0714	44	c.102 others(65): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATAGATAGATAGATAGATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0002 a0001c0120t0002	a0001c0120t0002g0121 a0001c0120t0002g0121	1	68	0.0147	44	c.51+ others(61): Show c.51+68592_51+68593insCTCTCTCTCTCTCTCTCTATATATATAT ATATATATATATATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33794348	A A	ACATATAT others(37): Show ACATATATTATATATATAACATATATAACATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03486.hp2 HG03516.hp2 HG02896.hp1 HG03486.hp2 HG03516.hp2	a0011 a0036 a0043 a0011 a0036 a0043	a0011c0086 a0036c0064 a0043c0024 a0011c0086 a0036c0064 a0043c0024	a0011c0086t0002 a0036c0064t0003 a0043c0024t0001 a0011c0086t0002 a0036c0064t0003 a0043c0024t0001	a0011c0086t0002g0111 a0036c0064t0003g0052 a0043c0024t0001g0110 a0011c0086t0002g0111 a0036c0064t0003g0052 a0043c0024t0001g0110	3	76	0.0395	44	c.983 others(63): Show c.9830+5890_9830+5891insCATATATTATATATATAACATATATA ACATATATATATGTGTAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103			chr15	TogoVar
SAMD11_chr1_918923_949574	936303	G G	GGGGGGTC others(37): Show GGGGGGTCCCCGGTCGGTCCCGCCTCCTAGGGCTCCTGGACGGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0219 a0003c0006t0003g0219	1	328	0.0030	44	c.967 others(59): Show c.967+411_967+412insGTCCCCGGTCGGTCCCGCCTCCTAGGGCTC CTGGACGGAAGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD14_chr17_50105040_50135160	50129033	C C	CAGATGGG others(37): Show CAGATGGGTTGGTTTTCTAGGGTTTGGGGGTGTGTTGTTTGGAGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0092 a0001c0001t0011g0092	1	396	0.0025	44	c.-13 others(59): Show c.-13+483_-13+484insCCTCCAAACAACACACCCCCAAACCCTAGA AAACCAACCCATCT	SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	1/9			chr17	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(37): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01943.hp2 HG02074.hp1 others(9): Show HG00609.hp2 HG01943.hp2 HG02074.hp1 HG04228.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18971.hp1 NA18989.hp2 NA18998.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0175 others(9): Show a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0175 a0001c0001t0002g0183 a0001c0001t0002g0210 a0001c0001t0002g0241 a0001c0001t0002g0289 a0001c0001t0002g0297 a0001c0001t0002g0308 a0001c0001t0002g0322 a0001c0001t0002g0327 a0001c0001t0004g0153	12	31	0.3871	44	c.25 others(55): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG03579.hp1 HG02647.hp2 HG02896.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0007g0219 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0007g0219	3	22	0.1364	44	c.25 others(55): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP130_chr2_127936222_128033059	128031430	C C	CCCATTCA others(37): Show CCCATTCAGACCATCTGGTACCCTGGACAACGGTCAGGAATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	348	0.0029	44	c.-34 others(55): Show c.-3498_-3497insATGGATTCCTGACCGTTGTCCAGGGTACCAGATG GTCTGAATGG	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding		3372		chr2	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02559.hp2 HG03139.hp1 HG01261.hp1 HG02559.hp2 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0033 a0002c0003t0002g0134 a0002c0003t0002g0033 a0002c0003t0002g0134	3	15	0.2000	44	c.995 others(59): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CATCTCCC others(37): Show CATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG03225.hp1 HG00558.hp2 HG01106.hp1 HG03225.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0067 a0002c0002 a0003c0003 a0004c0067	a0002c0002t0002 a0003c0003t0002 a0004c0067t0002 a0002c0002t0002 a0003c0003t0002 a0004c0067t0002	a0002c0002t0002g0167 a0003c0003t0002g0246 a0004c0067t0002g0236 a0002c0002t0002g0167 a0003c0003t0002g0246 a0004c0067t0002g0236	3	192	0.0156	44	c.249 others(63): Show c.2496-1751_2496-1750insTGAGGGGAGAGGGAGGGTGAGGGAGA GGGAGGGTGAGGGGAGAT	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669089	T T	TCTCCCTC others(37): Show TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19012.hp2 NA19065.hp1 HG03654.hp1 NA19012.hp2 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219	3	258	0.0116	44	c.249 others(63): Show c.2495+1494_2495+1495insGATGAGGGGAGAGGGAGGGTAAGGGG AGAGGGAGGGTGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(37): Show GTGCGCACGCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0137 a0001c0001t0013g0137	1	241	0.0041	44	c.157 others(63): Show c.157-21366_157-21365insTGCGCACGCACACACACACACACACA CACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148368768	G G	GTGCGCAC others(37): Show GTGCGCACGCACACACACACATACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0275 a0002c0004t0011g0275	1	241	0.0041	44	c.157 others(63): Show c.157-21366_157-21365insTGCGCACGCACACACACACATACACA CACACACACACACACACA	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148387566	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	119	0.0084	44	c.157 others(61): Show c.157-2485_157-2442dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SAT1_chrX_23778173_23791210	23780469	A A	AATATATA others(37): Show AATATATATATATTATATATAATATATATATATTATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	327	0.0031	44	c.-28 others(55): Show c.-2883_-2882insATATATATATATTATATATAATATATATATATTA TATATATATT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2703		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780486	T T	TATATAAT others(37): Show TATATAATATATATATATTATATATATATATAATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG06807.hp1 HG02055.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	324	0.0062	44	c.-28 others(55): Show c.-2866_-2865insATATAATATATATATATTATATATATATATAATA TATATATAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2686		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780488	T T	TATAATAT others(37): Show TATAATATATATATATTATATATATATATAATATATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA21309.hp1 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0001 a0001c0001t0003g0002	2	294	0.0068	44	c.-28 others(55): Show c.-2864_-2863insATAATATATATATATTATATATATATATAATATA TATATATAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2684		chrX	TogoVar
SAT1_chrX_23778173_23791210	23780502	A A	ATATATAT others(37): Show ATATATATATTATATATAATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG01081.hp2 others(8): Show HG00408.hp1 HG00639.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01516.hp1 HG02965.hp1 HG03225.hp1 HG03540.hp1 HG04184.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004	11	115	0.0957	44	c.-28 others(55): Show c.-2850_-2849insTATATATATTATATATAATATATATATATAATAT ATATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2670		chrX	TogoVar
SBF2_chr11_9773668_10299219	10196866	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0213 a0004c0006t0004g0213	1	12	0.0833	44	c.56- others(59): Show c.56-2880_56-2879insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	C C	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	4	0.2500	44	c.55+ others(61): Show c.55+39114_55+39115insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18987.hp2 NA19083.hp2 NA18965.hp1 NA18987.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0006 a0001c0003t0001g0009	3	369	0.0081	44	c.31 others(55): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATATA	SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding		3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(37): Show CTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20300.hp1 HG01891.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0015 a0004c0006t0012 a0003c0005t0015 a0004c0006t0012	a0003c0005t0015g0329 a0004c0006t0012g0075 a0003c0005t0015g0329 a0004c0006t0012g0075	2	360	0.0056	44	c.678 others(59): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(37): Show TACACACACACACATATACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01981.hp2 HG03195.hp1 others(1): Show HG01346.hp2 HG01981.hp2 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0055 others(1): Show a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0055 a0001c0004t0002g0006	4	153	0.0261	44	c.15 others(55): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACACACAC	SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding		1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78460770	T T	TTCCCTCC others(37): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02965.hp2 HG01167.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0132 a0001c0001t0026g0175 a0001c0001t0006g0132 a0001c0001t0026g0175	2	319	0.0063	44	c.852 others(61): Show c.852+1411_852+1412insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 NA19000.hp2 HG02273.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0151 a0001c0001t0001g0154	2	195	0.0103	44	c.-47 others(55): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(37): Show CACACACACACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0221 a0002c0002t0002g0221	1	24	0.0417	44	c.264 others(65): Show c.2645+13281_2645+13282insATATATATATATATATATATATGT GTGTGTGTGTGTGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47417894	G G	GGTGAGAG others(37): Show GGTGAGAGGGGGCGGGGGAGGGGGGTGAGAGGGGGCGGGGGAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(98): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp1 HG04228.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010	a0001c0001 a0002c0002 a0002c0011 others(5): Show a0001c0001 a0002c0002 a0002c0011 a0003c0004 a0004c0006 a0005c0007 a0009c0015 a0010c0012	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0011t0001 a0003c0004t0001 a0004c0006t0001 a0005c0007t0001 a0009c0015t0001 a0010c0012t0001	a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0214 others(98): Show a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0214 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0137 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0251 a0002c0002t0004g0284 a0002c0002t0004g0285 a0002c0002t0004g0286 a0002c0002t0008g0115 a0002c0011t0001g0097 a0003c0004t0001g0071 a0003c0004t0001g0139 a0003c0004t0001g0158 a0004c0006t0001g0070 a0004c0006t0001g0074 a0005c0007t0001g0054 a0005c0007t0001g0118 a0009c0015t0001g0072 a0010c0012t0001g0084	101	120	0.8417	44	c.244 others(59): Show c.2448-69_2448-68insTTCTCCCCCGCCCCCTCTCACCCCCCTCCC CCGCCCCCTCTCAC	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	16/22			chr3	TogoVar
SCART1_chr10_133448945_133474760	133460496	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0102 a0003c0007t0003g0102	1	417	0.0024	44	c.196 others(61): Show c.1969+327_1969+328insATATATATATATATATATATATATATAT ATATATATTTTTTTTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCCPDH_chr1_246719409_246773137	246765062	G G	GGTATAAT others(37): Show GGTATAATTACTGTCAGAGACAGACAGGTCCACTTGTGAACTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0262 a0001c0001t0007g0199 a0001c0001t0007g0262	2	408	0.0049	44	c.110 others(61): Show c.1102+748_1102+749insAGTATAATTACTGTCAGAGACAGACAGG TCCACTTGTGAACTGT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(37): Show AAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	9	0.1111	44	c.156 others(63): Show c.1561+4940_1561+4941insATATATATATATATATATATATATAT ATATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01071.hp2 others(4): Show HG00408.hp2 HG01070.hp1 HG01071.hp2 HG02004.hp2 HG02258.hp1 HG03704.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0178 a0001c0001t0001g0179 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0221 a0001c0001t0001g0379 a0001c0001t0001g0389 a0001c0001t0001g0391	7	378	0.0185	44	c.226 others(63): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	372	0.0027	44	c.226 others(63): Show c.226+13382_226+13383insGTGTATATATATATATATATATATAT ATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02257.hp2 HG04228.hp1 others(3): Show HG01070.hp2 HG02257.hp2 HG04228.hp1 NA18945.hp2 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0109 a0001c0001t0001g0305 others(3): Show a0001c0001t0001g0023 a0001c0001t0001g0109 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0338 a0001c0001t0002g0057	6	53	0.1132	44	c.226 others(63): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp2 HG02486.hp2 HG00140.hp2 HG01346.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0065 a0001c0001t0001g0118 a0001c0001t0001g0119	3	50	0.0600	44	c.226 others(63): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATGTATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(37): Show ATATATATATATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	48	0.0208	44	c.226 others(63): Show c.226+13394_226+13395insATATATATATATATATATGTATATAT ATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	141049	G G	GGTGAGGG others(37): Show GGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	230	0.0043	44	c.21 others(55): Show c.2107_*2108insGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGG GAGCCTTGGT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1983		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159626172	C C	CTATCTAT others(37): Show CTATCTATATAGATAGATAGATAGATAGATAGATATATCTAGATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	88	0.0114	44	c.64- others(63): Show c.64-138264_64-138263insATAGATAGATAGATAGATAGATAGAT ATATCTAGATATATCTAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIMP_chr17_5203920_5239860	5213008	C C	CTTTGAGG others(37): Show CTTTGAGGTGGTAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18977.hp1 NA18966.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0260 a0001c0001t0001g0266	2	244	0.0082	44	c.283 others(61): Show c.283+1916_283+1917insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAGTTACCACCTCAAA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	4/4			chr17	TogoVar

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