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
PTPRD_chr9_8309246_10618002	9833575	TTATTAGG others(77): Show TTATTAGGCGGGAATTTCCTCTTCCTAATAAGCGTGGGAGTGCTATGGGA GACTGGAGTTTATTTCACCTCTGCAGTCTCAACCA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02055.hp2 others(6): Show HG01243.hp1 HG01243.hp2 HG02055.hp2 HG02559.hp1 HG02559.hp2 HG03225.hp2 HG03579.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012	a0001c0001t0014 a0001c0001t0024 a0001c0002t0009 others(6): Show a0001c0001t0014 a0001c0001t0024 a0001c0002t0009 a0001c0002t0015 a0001c0003t0004 a0001c0003t0023 a0001c0004t0003 a0001c0006t0001 a0001c0012t0005	a0001c0001t0014g0008 a0001c0001t0024g0032 a0001c0002t0009g0017 others(6): Show a0001c0001t0014g0008 a0001c0001t0024g0032 a0001c0002t0009g0017 a0001c0002t0015g0010 a0001c0003t0004g0027 a0001c0003t0023g0031 a0001c0004t0003g0001 a0001c0006t0001g0019 a0001c0012t0005g0021	9	34	0.2647	-84	c.-36 others(105): Show c.-367-66808_-367-66725delTGGTTGAGACTGCAGAGGTGAAAT AAACTCCAGTCTCCCATAGCACTCCCACGCTTATTAGGAAGAGGAAATTC CCGCCTAATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
PUM1_chr1_30926506_31070717	30972285	AGGGGAGG others(77): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18972.hp1 NA18970.hp2 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0019 a0001c0002t0018 a0001c0002t0019	a0001c0002t0018g0308 a0001c0002t0019g0323 a0001c0002t0018g0308 a0001c0002t0019g0323	2	334	0.0060	-84	c.150 others(103): Show c.1506+2282_1506+2365delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCC	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
RAB40B_chr17_82649973_82703698	82696554	AAGCCCTG others(77): Show AAGCCCTGTCCTCCAGGCGCTCAATCTCCAGCCCTGTCCTCCAGGCGCTC AATCTCCAGCCCTGTCCTCCAGGCGCTCAATCTCC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	338	0.0030	-84	c.142 others(101): Show c.142+1817_142+1900delGGAGATTGAGCGCCTGGAGGACAGGGCT GGAGATTGAGCGCCTGGAGGACAGGGCTGGAGATTGAGCGCCTGGAGGAC AGGGCT	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RASA3_chr13_113972783_114137623	114044426	CGCCCCCC others(77): Show CGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACT CGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0007 a0005c0010t0001g0007	1	67	0.0149	-84	c.278 others(101): Show c.278-3416_278-3333delAGCTCAGCGAGTGAGGCGGGGCGGGGGG CTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGG GGGGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RBFOX1_chr16_6014024_7718340	7504719	ATATATAT others(77): Show ATATATATATATATATATATATATATATATATATATTTATATATATATAT ATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0029 a0001c0001t0037g0029	1	68	0.0147	-84	c.28- others(101): Show c.28-13411_28-13328delTATATATATATATATATATTTATATATA TATATATTTATATATATATATATTTATATATATATATATTTATATATATA TATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504719	ATATATAT others(77): Show ATATATATATATATATATATATATATATATATATATTTATATATATATAT ATTTATATATATATATATTTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0002 a0001c0001t0053g0002	1	234	0.0043	-84	c.88- others(101): Show c.88-13411_88-13328delTATATATATATATATATATTTATATATA TATATATTTATATATATATATATTTATATATATATATATTTATATATATA TATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM20_chr10_110639336_110844468	110767083	ACCCCCCC others(77): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGACCCCCCCCACCTCCCT CCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp2 HG02602.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0018 a0001c0003t0004g0004 a0001c0003t0001g0018 a0001c0003t0004g0004	2	268	0.0075	-84	c.192 others(103): Show c.192-13699_192-13616delGGACGGGGCGGCTGACCCCCCCCACC TCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCC	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RETNLB_chr3_108750638_108762410	108759539	ATACATAT others(77): Show ATACATATGTATGTATGTGTATACATACATATGTATGTATGTGTATACAT ACATATGTATGTATGTGTATACATACATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA19030.hp2 NA20129.hp2 HG02280.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	3	452	0.0066	-84	c.-24 others(95): Show c.-2438_-2355delCATACATATGTATGTATACACATACATACATATG TATGTATACACATACATACATATGTATGTATACACATACATACATATGTA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2130		chr3	TogoVar
REV3L_chr6_111294033_111488218	111422596	ACATATAT others(77): Show ACATATATATATATATACACATATATATATATATACACATATATATATAT ATACATATATATATATACATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp1 NA18522.hp1 HG02818.hp2 HG02922.hp1 NA18522.hp1	a0002 a0002	a0002c0009 a0002c0025 a0002c0009 a0002c0025	a0002c0009t0003 a0002c0025t0001 a0002c0009t0003 a0002c0025t0001	a0002c0009t0003g0110 a0002c0009t0003g0264 a0002c0025t0001g0109 a0002c0009t0003g0110 a0002c0009t0003g0264 a0002c0025t0001g0109	3	288	0.0104	-84	c.140 others(101): Show c.140-6208_140-6125delCGTATATATATATATATGTATATATATA TATGTATATATATATATATGTGTATATATATATATATGTGTATATATATA TATATG	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RGL3_chr19_11389060_11424314	11414335	ATATACCT others(77): Show ATATACCTTTATATATATATACCTTTATATATACCTTTATATATATATAT ACCTTTATATATATACCTTTATATATATATACCTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0156 a0006c0009t0001g0156	1	402	0.0025	-84	c.637 others(101): Show c.637+1518_637+1601delAAGGTATATATATATAAAGGTATATATA TAAAGGTATATATATATATAAAGGTATATATAAAGGTATATATATATAAA GGTATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RHCG_chr15_89466407_89501583	89474900	TCCTGCCT others(77): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTGCCTTCCTGCCTTCCTGCCTTC ATTCATTCCTGCCTGCCTGCCTTCATTCATTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02257.hp2 others(20): Show HG01496.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 others(15): Show a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0204	23	360	0.0639	-84	c.131 others(103): Show c.1311+1771_1311+1854delCAGGAATGAATGAAGGCAGGCAGGCA GGAATGAATGAAGGCAGGAAGGCAGGAAGGCAGGCAGGCAGGAAGGAAGG CAGGCAGG	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	9/10			chr15	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	ACCACCTG others(77): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	180	0.0056	-84	c.-35 others(105): Show c.-351-17746_-351-17663delAGAGGGAAGTGGTGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAG AGGCAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646171	CTGCCTCT others(77): Show CTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCT CCCTCACCACCTGCCTCTCCACCTCCCTCACCACT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0043 a0001c0021t0001g0043	1	180	0.0056	-84	c.-35 others(105): Show c.-351-17799_-351-17716delAGTGGTGAGGGAGGTGGAGAGGCA GGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGG TGGAGAGGCA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RNASET2_chr6_166917113_166961550	166925387	CACTGCCT others(77): Show CACTGCCTAGCCCTCACCTCCCCTGTCCAGCCCGTCCTCACCTACACTGC ACAGCCCTCACCTCTGCCACCCAGGCCTCATCTAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG03239.hp1 HG03491.hp1 others(13): Show HG02074.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04228.hp2 NA18942.hp2 NA18945.hp1 NA18949.hp2 NA18973.hp2 NA18982.hp2 NA18999.hp1 NA19001.hp1 NA19009.hp2 NA19056.hp2 NA19086.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0013 a0001c0002 a0008c0013	a0001c0002t0031 a0001c0002t0089 a0001c0002t0090 others(12): Show a0001c0002t0031 a0001c0002t0089 a0001c0002t0090 a0001c0002t0091 a0001c0002t0092 a0001c0002t0093 a0001c0002t0117 a0001c0002t0118 a0001c0002t0119 a0001c0002t0121 a0001c0002t0122 a0001c0002t0128 a0001c0002t0155 a0001c0002t0167 a0008c0013t0120	a0001c0002t0031g0007 a0001c0002t0089g0117 a0001c0002t0090g0131 others(12): Show a0001c0002t0031g0007 a0001c0002t0089g0117 a0001c0002t0090g0131 a0001c0002t0091g0070 a0001c0002t0092g0044 a0001c0002t0093g0109 a0001c0002t0117g0215 a0001c0002t0118g0204 a0001c0002t0119g0223 a0001c0002t0121g0229 a0001c0002t0122g0219 a0001c0002t0128g0206 a0001c0002t0155g0273 a0001c0002t0167g0306 a0008c0013t0120g0207	16	346	0.0462	-84	c.41 others(95): Show c.4117_*4200delATAGATGAGGCCTGGGTGGCAGAGGTGAGGGCTG TGCAGTGTAGGTGAGGACGGGCTGGACAGGGGAGGTGAGGGCTAGGCAGT	RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	9/9	4117		chr6	TogoVar
RNF213_chr17_80255852_80403794	80314628	GTACTGGA others(77): Show GTACTGGAGGTGATGGCGGTCGTGGAGGTGATGGTGGAGGTAATGGAGGT GGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0021 a0021	a0021c0022 a0021c0022	a0021c0022t0012 a0021c0022t0012	a0021c0022t0012g0170 a0021c0022t0012g0170	1	292	0.0034	-84	c.281 others(103): Show c.2811+1463_2811+1546delACTGGAGGTGATGGCGGTCGTGGAGG TGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTG GAGGTGAT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314901	GAGGTACT others(77): Show GAGGTACTGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGA GGTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG03831.hp1 others(9): Show HG00558.hp1 HG00609.hp2 HG03831.hp1 NA18945.hp1 NA18952.hp1 NA18957.hp1 NA18967.hp1 NA18969.hp2 NA18986.hp1 NA19004.hp1 NA19060.hp1 NA19082.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0102	a0001c0006 a0001c0028 a0002c0002 others(4): Show a0001c0006 a0001c0028 a0002c0002 a0003c0005 a0003c0029 a0006c0009 a0102c0068	a0001c0006t0011 a0001c0028t0007 a0001c0028t0011 others(8): Show a0001c0006t0011 a0001c0028t0007 a0001c0028t0011 a0002c0002t0009 a0003c0005t0011 a0003c0005t0080 a0003c0029t0007 a0006c0009t0005 a0006c0009t0010 a0006c0009t0019 a0102c0068t0019	a0001c0006t0011g0051 a0001c0028t0007g0039 a0001c0028t0011g0041 others(9): Show a0001c0006t0011g0051 a0001c0028t0007g0039 a0001c0028t0011g0041 a0002c0002t0009g0042 a0003c0005t0011g0253 a0003c0005t0080g0052 a0003c0029t0007g0037 a0003c0029t0007g0049 a0006c0009t0005g0273 a0006c0009t0010g0057 a0006c0009t0019g0272 a0102c0068t0019g0252	12	292	0.0411	-84	c.281 others(103): Show c.2811+1735_2811+1818delAGGTACTGGAGGTGATGGTGGTGGTG AAGGTGTTGGTGGAGGTACTGGAGGTGATGGTGGTCGTGTAGGTGATGGT GGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80315238	AGGTGATG others(77): Show AGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTG GTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0011 a0001c0076t0011	a0001c0076t0011g0216 a0001c0076t0011g0216	1	292	0.0034	-84	c.281 others(103): Show c.2812-1938_2812-1855delTGGACGTGATGGTGGAGGTAATGGAG GTGATGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RORA_chr15_60483284_61234302	60597537	ACACACAC others(77): Show ACACACACACACAACATATATATATATATATATATATACACATATATATA TATATATACACATATATATATATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02257.hp2 others(4): Show HG00639.hp2 HG01243.hp2 HG02257.hp2 HG02258.hp1 HG03195.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0037 a0001c0001t0046 others(3): Show a0001c0001t0008 a0001c0001t0037 a0001c0001t0046 a0001c0002t0003 a0001c0003t0014 a0001c0004t0008	a0001c0001t0008g0033 a0001c0001t0037g0105 a0001c0001t0046g0086 others(4): Show a0001c0001t0008g0033 a0001c0001t0037g0105 a0001c0001t0046g0086 a0001c0002t0003g0032 a0001c0003t0014g0012 a0001c0003t0014g0114 a0001c0004t0008g0071	7	118	0.0593	-84	c.197 others(103): Show c.197-65770_197-65687delATGTATATATATATATATATATATGT GTATATATATATATATATGTGTATATATATATATATATATATATGTTGTG TGTGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	272938	GAGAGACC others(77): Show GAGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCAAGGGCTAC GTCAGGGTGAGACCCCAGCGAGGGCGACATCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0068 a0001c0003t0001g0068	1	133	0.0075	-84	c.438 others(101): Show c.438+8746_438+8829delTCCTGATGTCGCCCTCGCTGGGGTCTCA CCCTGACGTAGCCCTTGCTGGGGTCTCACCCTGACGTAGCCCTTGCTGGG GTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272967	TGAGACCC others(77): Show TGAGACCCCAGCAAGGGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACA TCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02074.hp2 HG02135.hp1 others(3): Show HG01358.hp1 HG02074.hp2 HG02135.hp1 HG02135.hp2 NA18940.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0033 a0001c0004t0001 a0001c0009t0001	a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0003g0098 others(3): Show a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0003g0098 a0001c0001t0033g0063 a0001c0004t0001g0046 a0001c0009t0001g0044	6	133	0.0451	-84	c.438 others(101): Show c.438+8717_438+8800delTCCCTGACGTCGCCCTCGCTGGGGTCTC TTCCTGATGTCGCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTTGCTGG GGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273411	AGGGTGAG others(77): Show AGGGTGAGACCCCGGCGAGGGCGACGTCAGGAAGAGACCCCAGCGAGGGC GACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0063 a0001c0001t0033g0063	1	133	0.0075	-84	c.438 others(101): Show c.438+8273_438+8356delCGACGTCGCCCTCGCTGGGGTCTCTCCC TGACGTCGCCCTCGCTGGGGTCTCTTCCTGACGTCGCCCTCGCCGGGGTC TCACCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841215	CGCACGGC others(77): Show CGCACGGCAGCTCACTCTCACCGCACGGCAGCTCACTCTCACCGCACCGC AGCTCACTCTCACCGCACGGCAGCTCACTCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp1 HG02129.hp2 others(3): Show HG00621.hp1 HG01099.hp1 HG02129.hp2 NA18944.hp1 NA19068.hp2 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0060 others(2): Show a0001c0002 a0001c0004 a0001c0060 a0001c0086 a0003c0069	a0001c0002t0015 a0001c0002t0039 a0001c0004t0001 others(3): Show a0001c0002t0015 a0001c0002t0039 a0001c0004t0001 a0001c0060t0001 a0001c0086t0004 a0003c0069t0044	a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0004t0001g0152 others(3): Show a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0004t0001g0152 a0001c0060t0001g0130 a0001c0086t0004g0172 a0003c0069t0044g0099	6	196	0.0306	-84	c.121 others(103): Show c.1212+3233_1212+3316delTCTCACCGCACGGCAGCTCACTCTCA CCGCACCGCAGCTCACTCTCACCGCACGGCAGCTCACTCTCACAGCACGG CAGCTCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841230	TCTCACCG others(77): Show TCTCACCGCACGGCAGCTCACTCTCACCGCACCGCAGCTCACTCTCACCG CACGGCAGCTCACTCTCACAGCACGGCAGCTCACA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0125 a0001c0009t0001g0125	1	196	0.0051	-84	c.121 others(103): Show c.1212+3253_1212+3336delCTCTCACCGCACCGCAGCTCACTCTC ACCGCACGGCAGCTCACTCTCACAGCACGGCAGCTCACACTCACCGCACG GCAGCTCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSU1_chr10_16585611_16822424	16645908	ATGTATAT others(77): Show ATGTATATATATGTGTATATACACATATGTGTATATATATGTGTATATAC ATATATGTGTATATATATGTGTATATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02965.hp2 others(3): Show HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03098.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0024 a0001c0001t0036 others(3): Show a0001c0001t0006 a0001c0001t0024 a0001c0001t0036 a0001c0001t0041 a0001c0001t0044 a0001c0002t0001	a0001c0001t0006g0114 a0001c0001t0024g0116 a0001c0001t0036g0002 others(3): Show a0001c0001t0006g0114 a0001c0001t0024g0116 a0001c0001t0036g0002 a0001c0001t0041g0031 a0001c0001t0044g0077 a0001c0002t0001g0117	6	190	0.0316	-84	c.731 others(103): Show c.731+49031_731+49114delCATATATGTATATACACATATATATA CACATATATGTATATACACATATATATACACATATGTGTATATACACATA TATATACA	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8			chr10	TogoVar
SAMD11_chr1_918923_949574	933965	CCGTTACA others(77): Show CCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp1 HG02145.hp2 HG03486.hp1	a0004 a0005 a0004 a0005	a0004c0008 a0005c0037 a0004c0008 a0005c0037	a0004c0008t0002 a0005c0037t0021 a0004c0008t0002 a0005c0037t0021	a0004c0008t0002g0271 a0005c0037t0021g0267 a0004c0008t0002g0271 a0005c0037t0021g0267	2	434	0.0046	-84	c.843 others(101): Show c.843-1751_843-1668delGCGTTACAGGTGGGCAGGGGAGGCGGCT GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934161	GCGTTACA others(77): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0359 a0001c0002t0002g0359	1	434	0.0023	-84	c.843 others(101): Show c.843-1555_843-1472delCCGTTACAGGTGGGCAGGGGAGGCGGCT CCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934217	CCGTTACA others(77): Show CCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0024 a0001c0009t0007g0024	2	434	0.0046	-84	c.843 others(101): Show c.843-1540_843-1457delAGGGGAGGCGGCTCCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934465	GGCTGCGT others(77): Show GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0262 a0001c0002t0002g0262	1	434	0.0023	-84	c.843 others(101): Show c.843-1303_843-1220delGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934749	GCGTTACA others(77): Show GCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0004 a0014c0026t0004	a0014c0026t0004g0232 a0014c0026t0004g0232	1	434	0.0023	-84	c.843 others(100): Show c.843-1008_843-925delAGGGGAGGCGGCTGCGTTACAGGTGGGCA GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGG TGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934792	AGGGGAGG others(77): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0271 a0004c0008t0002g0271	1	434	0.0023	-84	c.843 others(99): Show c.843-939_843-856delCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCML4_chr6_107697154_107829313	107783033	AGCTGGTC others(77): Show AGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGAT GGCAGGTGCTGGTCTGAGTTTGCCTGATGGCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0248 a0001c0002t0005g0248	1	250	0.0040	-84	c.-59 others(103): Show c.-59-10731_-59-10648delACCTGCCATCAGGCAAACTCAGACCA GCACCTGCCATCAGGCAAACTCAGACCAGCACCTCCCATCAGGCAAACTC AGACCAGC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783365	GAGGAGCT others(77): Show GAGGAGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCC TGATGGCAGGTGCTGGTCTGAGTTTGCCTGATGGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03139.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0013 a0001c0008t0001 a0001c0001t0013 a0001c0008t0001	a0001c0001t0013g0068 a0001c0008t0001g0069 a0001c0001t0013g0068 a0001c0008t0001g0069	2	250	0.0080	-84	c.-59 others(103): Show c.-59-11063_-59-10980delGCCATCAGGCAAACTCAGACCAGCAC CTGCCATCAGGCAAACTCAGACCAGCACCTCCCATCAGGCAAACTCAGAC CAGCTCCT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107783481	TGCTGGTC others(77): Show TGCTGGTCTGAGTTTGCCTGATGGGAGGTGCTGGTCTGAGTTTGCCTGAT GGCAGGTGCTGGTCTGAGTTTGCCTGATGGGAGGA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp2 HG01433.hp1 others(2): Show HG00735.hp1 HG01257.hp2 HG01433.hp1 HG01952.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0006 a0002c0004 a0002c0006	a0002c0004t0009 a0002c0004t0014 a0002c0006t0009 others(1): Show a0002c0004t0009 a0002c0004t0014 a0002c0006t0009 a0002c0006t0022	a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0006t0009g0016 others(2): Show a0002c0004t0009g0175 a0002c0004t0014g0019 a0002c0006t0009g0016 a0002c0006t0009g0240 a0002c0006t0022g0015	5	250	0.0200	-84	c.-59 others(103): Show c.-59-11179_-59-11096delTCCTCCCATCAGGCAAACTCAGACCA GCACCTGCCATCAGGCAAACTCAGACCAGCACCTCCCATCAGGCAAACTC AGACCAGC	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCNN1B_chr16_23297302_23386294	23379016	TCCTCCAT others(77): Show TCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTC CATTCTCCCACCCAGCCATCCTCCACCCATTCATC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	306	0.0033	-84	c.146 others(101): Show c.1466+268_1466+351delGCGCCCAGCCATCCTCCACTCATTCATC CTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCC ACCCAC	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEPTIN5_chr22_19709503_19728319	19727618	GCGCTGTG others(77): Show GCGCTGTGGGGGCGGTGAGGACGCTGCAGATGTTGACGCTGTGGATGCTG TGGGGGTGGCGAGGGCTCTTTGGACGCGGTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03471.hp1 NA19074.hp2 HG02976.hp2 HG03471.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0005g0009 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0005g0009	3	384	0.0078	-84	c.51 others(95): Show c.5135_*5218delCGCTGTGGGGGCGGTGAGGACGCTGCAGATGTTG ACGCTGTGGATGCTGTGGGGGTGGCGAGGGCTCTTTGGACGCGGTGAGGA	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		4300		chr22	TogoVar
SEPTIN8_chr5_132745819_132782239	132770063	GTATATAT others(77): Show GTATATATATATATATATGTATATATGTATATATATATGTATATATGTAT ATATATATATATGTATATATGTGTATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(24): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01496.hp1 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0080 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0003g0054 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0004g0020 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0262 a0001c0003t0003g0006 a0001c0003t0003g0151	27	326	0.0828	-84	c.31- others(99): Show c.31-4618_31-4535delTACACACACATACACATATATACATATATA TATATATACATATATACATATATATATACATATATACATATATATATATA TATA	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SHISA9_chr16_12896598_13245416	12970360	TATATATA others(77): Show TATATATATACATATATATATACATATATGTATATATATATATACATATA TATATATACACATATATGTATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0103 a0001c0001t0096g0103	1	214	0.0047	-84	c.691 others(103): Show c.691+53555_691+53638delCATATATATATACATATATGTATATA TATATATACATATATATATATACACATATATGTATATATATATACACACA TATATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM4_chrX_50581796_50819194	50618277	CCCCTTCC others(77): Show CCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp1 HG02040.hp1 others(6): Show HG01099.hp1 HG01934.hp1 HG02040.hp1 HG02145.hp1 HG02165.hp1 HG02886.hp1 HG03098.hp1 HG03942.hp1 NA18522.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0003 a0003c0010 others(1): Show a0002c0002 a0002c0003 a0003c0010 a0004c0005	a0002c0002t0001 a0002c0002t0044 a0002c0003t0001 others(3): Show a0002c0002t0001 a0002c0002t0044 a0002c0003t0001 a0003c0010t0019 a0004c0005t0003 a0004c0005t0007	a0002c0002t0001g0013 a0002c0002t0001g0027 a0002c0002t0001g0151 others(6): Show a0002c0002t0001g0013 a0002c0002t0001g0027 a0002c0002t0001g0151 a0002c0002t0044g0041 a0002c0003t0001g0072 a0002c0003t0001g0173 a0003c0010t0019g0057 a0004c0005t0003g0172 a0004c0005t0007g0012	9	175	0.0514	-84	c.295 others(103): Show c.2957+9253_2957+9336delAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGG	SHROOM4	ENSG00000158352.18	transcript	ENST00000376020.9	protein_coding	5/8			chrX	TogoVar
SKI_chr1_2223319_2315213	2280674	CGGCGATC others(77): Show CGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGAT CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18947.hp2 NA19062.hp2 others(1): Show HG01074.hp2 NA18947.hp2 NA19062.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0031 a0001c0001t0057	a0001c0001t0001g0278 a0001c0001t0007g0281 a0001c0001t0031g0321 others(1): Show a0001c0001t0001g0278 a0001c0001t0007g0281 a0001c0001t0031g0321 a0001c0001t0057g0288	4	330	0.0121	-84	c.970 others(103): Show c.970-22299_970-22216delATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG CGGTGGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280717	CGGCGATC others(77): Show CGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02818.hp2 HG02074.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0065 a0001c0001t0009g0095 a0001c0001t0006g0065 a0001c0001t0009g0095	2	330	0.0061	-84	c.970 others(103): Show c.970-22256_970-22173delATCTTCAGAGAGAGAGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281465	GAGAGGAC others(77): Show GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGA CGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	330	0.0030	-84	c.970 others(103): Show c.970-21508_970-21425delGACGCCCGAGAGGACAGGCGGTGGTG GAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCT TCATAGAG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A3_chr16_56860207_56920850	56878745	CCAAGGGA others(77): Show CCAAGGGACTTGGTCCAGCTCACAGCCACTCGAGGCTTGAGATCCAGGTC TCCGATCTAAGGAGGACATTGTGATCTTGGTCACT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0001 a0020c0035t0001	a0020c0035t0001g0181 a0020c0035t0001g0181	1	420	0.0024	-84	c.118 others(101): Show c.1181-323_1181-240delGGACTTGGTCCAGCTCACAGCCACTCGA GGCTTGAGATCCAGGTCTCCGATCTAAGGAGGACATTGTGATCTTGGTCA CTCAAG	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	9/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A7_chr5_1045384_1117063	1072941	GAGCCCCC others(77): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	118	0.0085	-84	c.224 others(101): Show c.2241+608_2241+691delGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A1_chr6_160116815_160163718	160125471	GGGGATGT others(77): Show GGGGATGTGGGCATTTTCCTGACTTTTGACTCTTCCCAACAAGAGGATCT CCTCTGGTGCTAAGATCATGAGGTCCACTCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG02027.hp1 others(33): Show HG00408.hp1 HG00423.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02257.hp1 HG03491.hp1 HG03942.hp2 HG04204.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18959.hp2 NA18965.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp1 NA19004.hp1 NA19012.hp1 NA19055.hp1 NA19060.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19087.hp1 NA19240.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0012	a0001c0002 a0005c0005 a0007c0027 others(1): Show a0001c0002 a0005c0005 a0007c0027 a0012c0036	a0001c0002t0001 a0005c0005t0001 a0007c0027t0001 others(1): Show a0001c0002t0001 a0005c0005t0001 a0007c0027t0001 a0012c0036t0001	a0001c0002t0001g0319 a0005c0005t0001g0005 a0005c0005t0001g0021 others(25): Show a0001c0002t0001g0319 a0005c0005t0001g0005 a0005c0005t0001g0021 a0005c0005t0001g0043 a0005c0005t0001g0044 a0005c0005t0001g0045 a0005c0005t0001g0300 a0005c0005t0001g0301 a0005c0005t0001g0302 a0005c0005t0001g0303 a0005c0005t0001g0305 a0005c0005t0001g0306 a0005c0005t0001g0307 a0005c0005t0001g0308 a0005c0005t0001g0309 a0005c0005t0001g0310 a0005c0005t0001g0311 a0005c0005t0001g0312 a0005c0005t0001g0314 a0005c0005t0001g0315 a0005c0005t0001g0316 a0005c0005t0001g0317 a0005c0005t0001g0318 a0005c0005t0001g0320 a0005c0005t0001g0321 a0005c0005t0001g0322 a0007c0027t0001g0313 a0012c0036t0001g0304	36	416	0.0865	-84	c.411 others(101): Show c.411+3146_411+3229delACTTTTGACTCTTCCCAACAAGAGGATC TCCTCTGGTGCTAAGATCATGAGGTCCACTCAGGGAGGGATGTGGGCATT TTCCTG	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC2A13_chr12_39750025_40111081	39895616	ATATACGT others(77): Show ATATACGTACACACATATGTATATGCGTGTATACGTACACACATATGTAT ATGCGTGTATACGTACACACATATGTATATGCGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	214	0.0047	-84	c.103 others(105): Show c.1035-23739_1035-23656delCACGCATATACATATGTGTGTACG TATACACGCATATACATATGTGTGTACGTATACACGCATATACATATGTG TGTACGTATA	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC35F4_chr14_57558920_57871092	57821125	AGCCAAAG others(77): Show AGCCAAAGGCAAAAACAATGCTAGTTCAGCCACAGCTTCCAAGTCACACA GACAACTTCTTCCCAGGCTTTTGGATTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02040.hp2 HG02080.hp1 others(18): Show HG00408.hp1 HG02040.hp2 HG02080.hp1 HG02083.hp1 NA18612.hp2 NA18957.hp2 NA18959.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19057.hp2 NA19063.hp2 NA19074.hp1 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0173 a0001c0001t0001g0174 others(18): Show a0001c0001t0001g0058 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032	21	218	0.0963	-84	c.103 others(103): Show c.103+44514_103+44597delATCACAAAAATCCAAAAGCCTGGGAA GAAGTTGTCTGTGTGACTTGGAAGCTGTGGCTGAACTAGCATTGTTTTTG CCTTTGGC	SLC35F4	ENSG00000151812.15	transcript	ENST00000556826.6	protein_coding	1/7			chr14	TogoVar
SLK_chr10_103962140_104034233	103974652	GGCCTTTT others(77): Show GGCCTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCT	G G	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	376	0.0027	-84	c.150 others(101): Show c.150+6762_150+6845delTTTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CTGCCT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMCHD1_chr18_2650726_2810017	2661479	AAATCTGT others(77): Show AAATCTGTGGGTTTTTAATATGGATTAAAAAACATCTGTGGGTTTTTAAT ATGGATTAAACATCTGTGGGTTTTTAATATGGATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0241 a0001c0005t0009g0241	1	340	0.0029	-84	c.187 others(101): Show c.187-4675_187-4592delTCTGTGGGTTTTTAATATGGATTAAAAA ACATCTGTGGGTTTTTAATATGGATTAAACATCTGTGGGTTTTTAATATG GATTAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMIM10L1_chr12_11166194_11181016	11168268	GAAAGAAA others(77): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG03654.hp2 HG03831.hp2 others(2): Show HG00558.hp2 HG03654.hp2 HG03831.hp2 NA18948.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0000 a0001c0002t0008g0000 a0001c0002t0003g0000 a0001c0002t0008g0000	5	397	0.0126	-84	c.-30 others(95): Show c.-3088_-3005delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2925		chr12	TogoVar
SMPDL3B_chr1_27930000_27964152	27947479	GGCCATTA others(77): Show GGCCATTAGAAATTAGGTATGTTTTACTACTCAGGAGGCTGAGGCAGGAG AATCGCTTGAACCTGGGAGACGGAGGTTGCAGTGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG03139.hp2 others(2): Show HG01255.hp2 HG02280.hp1 HG03139.hp2 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0222 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0222	5	432	0.0116	-84	c.276 others(101): Show c.276-1582_276-1499delATTAGAAATTAGGTATGTTTTACTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCAG TGAGCC	SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar

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