Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTK2_chr8_140652900_141006282	140670488	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0097 a0001c0003t0005g0099 a0001c0003t0005g0100 a0001c0003t0005g0097 a0001c0003t0005g0099 a0001c0003t0005g0100	3	290	0.0103	-26	c.283 others(43): Show c.2833-779_2833-754delGTGTGTGTGTGTGTGTGTGTGTGTGT	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	32/35			chr8	TogoVar
PTP4A2_chr1_31901421_31943368	31908114	ATATATAT others(19): Show ATATATATATATATATATATATTATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG02056.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0148 a0001c0001t0045g0327 a0001c0001t0045g0148 a0001c0001t0045g0327	2	354	0.0057	-26	c.71 others(35): Show c.712_*737delATATAATATATATATATATATATATA	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	712		chr1	TogoVar
PTPN11_chr12_112413947_112514918	112442830	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03239.hp1 HG02165.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0239 a0001c0001t0003g0126 a0001c0001t0002g0239 a0001c0001t0003g0126	2	300	0.0067	-26	c.15- others(41): Show c.15-3423_15-3398delTATATATATATATATATATATATATA	PTPN11	ENSG00000179295.19	transcript	ENST00000351677.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPN12_chr7_77532295_77645069	77625504	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCACTCTCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	310	0.0032	-26	c.102 others(45): Show c.1026-1195_1026-1170delTCTCTCTCTCTCTCACTCTCACTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77641210	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	310	0.0032	-26	c.19 others(37): Show c.1931_*1956delTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		1142		chr7	TogoVar
PTPN22_chr1_113808811_113876712	113849437	ACCTGAAA others(19): Show ACCTGAAAGGGCCTATTCAGGGTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	358	0.0028	-26	c.829 others(41): Show c.829-837_829-812delGAAAACCCTGAATAGGCCCTTTCAGG	PTPN22	ENSG00000134242.16	transcript	ENST00000359785.10	protein_coding	10/20			chr1	TogoVar
PTPN4_chr2_119754922_119989899	119766458	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG00738.hp1 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0024 a0002c0003t0015g0025 a0002c0003t0015g0024 a0002c0003t0015g0025	2	252	0.0079	-26	c.-18 others(43): Show c.-18+6100_-18+6125delCTGTGTGTGTGTGTGTGTGTGTGTGT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75530687	TTATAATA others(19): Show TTATAATATATATAATATATATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp1 HG01884.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0310 a0001c0001t0008g0207 a0001c0001t0006g0310 a0001c0001t0008g0207	2	326	0.0061	-26	c.64- others(41): Show c.64-3452_64-3427delTAATAATATATATTATATATATTATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	2910006	TATATCAT others(19): Show TATATCATATATAATCTATCATATATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp2 others(83): Show HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA19004.hp1 NA19006.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0002c0002t0009 a0001c0003t0001 a0002c0002t0001 a0002c0002t0009	a0001c0003t0001g0311 a0002c0002t0001g0004 a0002c0002t0001g0005 others(83): Show a0001c0003t0001g0311 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0205 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0009g0280	86	356	0.2416	-26	c.-12 others(47): Show c.-128-13186_-128-13161delCTATCATATATCATATCATATATA AT	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRB_chr12_70510870_70642429	70546782	AGAGGCTG others(19): Show AGAGGCTGGAGGAGAAGCAGTCCCAGG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0161 a0006c0008t0003g0161	1	300	0.0033	-26	c.538 others(45): Show c.5388-2145_5388-2120delCCTGGGACTGCTTCTCCTCCAGCCTC	PTPRB	ENSG00000127329.16	transcript	ENST00000334414.11	protein_coding	21/33			chr12	TogoVar
PTPRC_chr1_198634040_198762476	198660030	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00544.hp2 others(133): Show HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19009.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0021 a0001c0022 a0002c0003 a0002c0007 a0002c0008 a0004c0006 a0006c0011 a0009c0019 a0010c0014 a0011c0013 a0012c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(19): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0005t0001 a0001c0021t0001 a0001c0022t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0002c0007t0001 a0002c0008t0002 a0004c0006t0001 a0006c0011t0001 a0009c0019t0002 a0010c0014t0001 a0011c0013t0001 a0012c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(133): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0067 a0001c0001t0008g0101 a0001c0001t0009g0130 a0001c0001t0009g0135 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0074 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0112 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0002g0238 a0001c0002t0003g0059 a0001c0002t0004g0114 a0001c0002t0013g0119 a0001c0005t0001g0082 a0001c0021t0001g0075 a0001c0022t0002g0076 a0002c0003t0002g0024 a0002c0003t0002g0026 a0002c0003t0002g0034 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0087 a0002c0003t0002g0088 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0002g0093 a0002c0003t0002g0095 a0002c0003t0002g0098 a0002c0003t0002g0102 a0002c0003t0002g0105 a0002c0003t0002g0106 a0002c0003t0002g0107 a0002c0003t0002g0108 a0002c0003t0002g0110 a0002c0003t0002g0115 a0002c0003t0002g0118 a0002c0003t0002g0121 a0002c0003t0002g0123 a0002c0003t0002g0126 a0002c0003t0002g0131 a0002c0003t0002g0133 a0002c0003t0003g0094 a0002c0003t0011g0045 a0002c0003t0011g0055 a0002c0007t0001g0073 a0002c0007t0001g0081 a0002c0007t0001g0085 a0002c0008t0002g0078 a0002c0008t0002g0089 a0002c0008t0002g0096 a0004c0006t0001g0124 a0006c0011t0001g0113 a0006c0011t0001g0122 a0009c0019t0002g0072 a0010c0014t0001g0027 a0011c0013t0001g0033 a0012c0015t0001g0019	136	296	0.4595	-26	c.73+ others(43): Show c.73+20702_73+20727delATATATATATATATATATATATATAT	PTPRC	ENSG00000081237.21	transcript	ENST00000442510.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRD_chr9_8309246_10618002	8321479	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	34	0.0294	-26	c.553 others(45): Show c.5535-1539_5535-1514delTATATATATATATATATACACACACA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	44/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8353830	ATGTATAT others(19): Show ATGTATATATGTATATATGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	34	0.0294	-26	c.466 others(47): Show c.4662-11878_4662-11853delCATATATACATATATACATATATA CA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	39/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8726588	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0017 a0001c0011t0017	a0001c0011t0017g0016 a0001c0011t0017g0016	1	34	0.0294	-26	c.64+ others(41): Show c.64+7166_64+7191delATATATATATATATATATATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8757641	TACATACA others(19): Show TACATACATATATACATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0005 a0001c0017t0002g0005	1	34	0.0294	-26	c.-10 others(47): Show c.-103-23721_-103-23696delGTATATATATATGTATATATGTAT GT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8782058	CGTTTATG others(19): Show CGTTTATGGTATAAAACATACCATAAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp2 HG00642.hp2 HG01981.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0019 a0002c0005t0010 a0001c0001t0019 a0002c0005t0010	a0001c0001t0019g0023 a0002c0005t0010g0026 a0001c0001t0019g0023 a0002c0005t0010g0026	2	34	0.0588	-26	c.-10 others(47): Show c.-103-48138_-103-48113delATTATGGTATGTTTTATACCATAA AC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8892660	TGTATATA others(19): Show TGTATATATATGTGTATATATATATGA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0032 a0001c0001t0024g0032	1	34	0.0294	-26	c.-10 others(49): Show c.-104+126011_-104+126036delTCATATATATATACACATATAT ATAC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8948414	TATATATA others(19): Show TATATATATATTTATATATATATTTAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	34	0.0294	-26	c.-10 others(47): Show c.-104+70257_-104+70282delGTAAATATATATATAAATATATAT AT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9211515	GCACACAC others(19): Show GCACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03225.hp2 HG03834.hp2 others(1): Show HG02683.hp2 HG03225.hp2 HG03834.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0010	a0001c0001t0024 a0001c0003t0004 a0001c0007t0026 others(1): Show a0001c0001t0024 a0001c0003t0004 a0001c0007t0026 a0004c0010t0006	a0001c0001t0024g0032 a0001c0003t0004g0027 a0001c0007t0026g0034 others(1): Show a0001c0001t0024g0032 a0001c0003t0004g0027 a0001c0007t0026g0034 a0004c0010t0006g0007	4	34	0.1177	-26	c.-20 others(47): Show c.-202-28178_-202-28153delTGTGTGTGTGTGTGTGTGTGTGTG TG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9286873	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 NA19240.hp2 HG00642.hp1 HG01109.hp1 NA19240.hp2	a0001 a0001	a0001c0008 a0001c0014 a0001c0015 a0001c0008 a0001c0014 a0001c0015	a0001c0008t0021 a0001c0014t0012 a0001c0015t0025 a0001c0008t0021 a0001c0014t0012 a0001c0015t0025	a0001c0008t0021g0002 a0001c0014t0012g0014 a0001c0015t0025g0033 a0001c0008t0021g0002 a0001c0014t0012g0014 a0001c0015t0025g0033	3	34	0.0882	-26	c.-20 others(49): Show c.-202-103536_-202-103511delATATATATATATATATATATAT ATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9646302	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0021 a0001c0012t0005g0021	1	34	0.0294	-26	c.-28 others(47): Show c.-286-71547_-286-71522delACACACACACCCACACACACACAC AC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	7/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10194335	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0012 a0001c0001t0022g0012	1	34	0.0294	-26	c.-54 others(49): Show c.-545+146602_-545+146627delCTCTCTCTCTCTCTCTATATAT ATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10194339	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0023 a0001c0001t0019g0023	1	34	0.0294	-26	c.-54 others(49): Show c.-545+146598_-545+146623delCTCTCTCTCTCTCTCTCTCTAT ATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10194341	TATATAGA others(19): Show TATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0015 a0001c0004t0018g0015	1	34	0.0294	-26	c.-54 others(49): Show c.-545+146596_-545+146621delCTCTCTCTCTCTCTCTCTCTCT ATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10194343	TATAGAGA others(19): Show TATAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0025 a0001c0015t0025	a0001c0015t0025g0033 a0001c0015t0025g0033	1	34	0.0294	-26	c.-54 others(49): Show c.-545+146594_-545+146619delCTCTCTCTCTCTCTCTCTCTCT CTAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10511964	ATACGTGT others(19): Show ATACGTGTGTGTGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	34	0.0294	-26	c.-60 others(49): Show c.-600+100408_-600+100433delCGTATATATATATACACACACA CGTA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	62092063	GACACACA others(19): Show GACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0017 a0002c0003t0001g0017	1	94	0.0106	-26	c.615 others(45): Show c.615+13847_615+13872delCACACACACACACACACACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48168534	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0062 a0002c0001t0062	a0002c0001t0062g0146 a0002c0001t0062g0146	1	216	0.0046	-26	c.11 others(37): Show c.1195_*1220delTATATATATATATATATATATATATA	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	25/25	1195	INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRM_chr18_7562316_8411856	8125976	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp2 HG01106.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0045 a0001c0003t0001g0064 a0001c0001t0001g0045 a0001c0003t0001g0064	2	80	0.0250	-26	c.216 others(47): Show c.2167+11176_2167+11201delATATATATATATATATATATATAT AT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	13/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240497	GAGAGGAA others(19): Show GAGAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 NA19043.hp1 others(1): Show HG02451.hp2 HG02622.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0006 others(1): Show a0001c0002 a0001c0004 a0001c0006 a0001c0018	a0001c0002t0006 a0001c0004t0001 a0001c0006t0002 others(1): Show a0001c0002t0006 a0001c0004t0001 a0001c0006t0002 a0001c0018t0003	a0001c0002t0006g0073 a0001c0004t0001g0066 a0001c0006t0002g0012 others(1): Show a0001c0002t0006g0073 a0001c0004t0001g0066 a0001c0006t0002g0012 a0001c0018t0003g0079	4	80	0.0500	-26	c.230 others(45): Show c.2301-3558_2301-3533delAGGAAGGAAGGAAGGAAGGAAGGAAG	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240637	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02630.hp2 others(2): Show HG01884.hp2 HG02559.hp1 HG02630.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0005t0001	a0001c0003t0001g0019 a0001c0003t0001g0040 a0001c0003t0002g0003 others(2): Show a0001c0003t0001g0019 a0001c0003t0001g0040 a0001c0003t0002g0003 a0001c0003t0003g0071 a0001c0005t0001g0009	5	80	0.0625	-26	c.230 others(45): Show c.2301-3417_2301-3392delGAGAGAGAGAGAGAAAGAAAGAAAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8240806	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02451.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0001 a0001c0018t0003 a0001c0002t0001 a0001c0018t0003	a0001c0002t0001g0050 a0001c0018t0003g0079 a0001c0002t0001g0050 a0001c0018t0003g0079	2	80	0.0250	-26	c.230 others(45): Show c.2301-3248_2301-3223delGAGAGAGAGAGAGAGAGAAAGAAAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15438970	TTTTCCTT others(19): Show TTTTCCTTAGGCAAAGATCTTAAGATC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00673.hp1 others(7): Show HG00423.hp2 HG00621.hp2 HG00673.hp1 HG02132.hp2 HG04184.hp2 NA18942.hp2 NA18946.hp1 NA18962.hp2 NA18981.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0006t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0004 a0001c0009t0001	a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0113 others(7): Show a0001c0001t0001g0073 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0003t0001g0051 a0001c0003t0001g0124 a0001c0003t0001g0150 a0001c0006t0004g0114 a0001c0006t0004g0123 a0001c0009t0001g0153 a0001c0009t0001g0154	10	164	0.0610	-26	c.76- others(43): Show c.76-44993_76-44968delCAAAGATCTTAAGATCTTTCCTTAGG	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRO_chr12_15317508_15603331	15513136	GAAGGAAG others(19): Show GAAGGAAGAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp1 HG02451.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0078 a0001c0002t0003g0079 a0001c0001t0001g0078 a0001c0002t0003g0079	2	164	0.0122	-26	c.146 others(45): Show c.1465-2358_1465-2333delGAAGAAAGAAAGAAAGAAAAAGAAAG	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRO_chr12_15317508_15603331	15513140	GAAGAAAG others(19): Show GAAGAAAGAAAGAAAGAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18988.hp1 HG03209.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0042 a0001c0002t0002g0064 a0001c0001t0001g0042 a0001c0002t0002g0064	2	164	0.0122	-26	c.146 others(45): Show c.1465-2339_1465-2314delAAGAAAGAAAGAAAGAAAGAAAGAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70666935	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0110 a0001c0004t0001g0110	1	204	0.0049	-26	c.149 others(45): Show c.1498-4356_1498-4331delAAAAAAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	10/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5223646	TCTGCCTC others(19): Show TCTGCCTCCCGGGTTCAAGGGATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01167.hp2 others(40): Show HG00738.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03710.hp1 HG03927.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18971.hp1 NA18983.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0007 a0015 others(1): Show a0001 a0007 a0015 a0018	a0001c0003 a0001c0014 a0001c0015 others(18): Show a0001c0003 a0001c0014 a0001c0015 a0001c0016 a0001c0019 a0001c0023 a0001c0027 a0001c0028 a0001c0029 a0001c0035 a0001c0056 a0001c0062 a0001c0063 a0001c0067 a0001c0068 a0001c0072 a0001c0074 a0001c0075 a0007c0064 a0015c0061 a0018c0060	a0001c0003t0004 a0001c0003t0042 a0001c0003t0043 others(22): Show a0001c0003t0004 a0001c0003t0042 a0001c0003t0043 a0001c0014t0001 a0001c0014t0012 a0001c0015t0021 a0001c0015t0027 a0001c0016t0016 a0001c0019t0011 a0001c0023t0019 a0001c0027t0003 a0001c0028t0019 a0001c0029t0007 a0001c0035t0044 a0001c0056t0003 a0001c0062t0008 a0001c0063t0016 a0001c0067t0012 a0001c0068t0001 a0001c0072t0001 a0001c0074t0004 a0001c0075t0018 a0007c0064t0004 a0015c0061t0004 a0018c0060t0004	a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0079 others(40): Show a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0079 a0001c0003t0004g0085 a0001c0003t0004g0140 a0001c0003t0004g0164 a0001c0003t0004g0167 a0001c0003t0004g0190 a0001c0003t0004g0200 a0001c0003t0004g0207 a0001c0003t0004g0254 a0001c0003t0004g0259 a0001c0003t0042g0051 a0001c0003t0043g0263 a0001c0014t0001g0019 a0001c0014t0001g0138 a0001c0014t0001g0144 a0001c0014t0012g0050 a0001c0015t0021g0025 a0001c0015t0021g0026 a0001c0015t0027g0032 a0001c0016t0016g0031 a0001c0016t0016g0036 a0001c0016t0016g0040 a0001c0019t0011g0017 a0001c0019t0011g0044 a0001c0023t0019g0002 a0001c0023t0019g0054 a0001c0027t0003g0010 a0001c0028t0019g0052 a0001c0029t0007g0109 a0001c0035t0044g0045 a0001c0056t0003g0016 a0001c0062t0008g0136 a0001c0063t0016g0042 a0001c0067t0012g0015 a0001c0068t0001g0034 a0001c0072t0001g0009 a0001c0074t0004g0006 a0001c0075t0018g0037 a0007c0064t0004g0135 a0015c0061t0004g0203 a0018c0060t0004g0201	43	276	0.1558	-26	c.249 others(43): Show c.2495-375_2495-350delGAGAATCCCTTGAACCCGGGAGGCAG	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	17/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42278073	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0027 a0001c0007 a0001c0027	a0001c0007t0004 a0001c0027t0028 a0001c0007t0004 a0001c0027t0028	a0001c0007t0004g0062 a0001c0027t0028g0049 a0001c0007t0004g0062 a0001c0027t0028g0049	2	62	0.0323	-26	c.217 others(45): Show c.2176+4390_2176+4415delTATATATATATATATATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	13/30			chr20	TogoVar
PTPRZ1_chr7_121868161_122067036	122000646	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 NA19043.hp2 HG02145.hp2 HG02922.hp1 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0037 a0001c0001 a0009c0037	a0001c0001t0004 a0001c0001t0005 a0009c0037t0006 a0001c0001t0004 a0001c0001t0005 a0009c0037t0006	a0001c0001t0004g0021 a0001c0001t0005g0031 a0009c0037t0006g0209 a0001c0001t0004g0021 a0001c0001t0005g0031 a0009c0037t0006g0209	3	312	0.0096	-26	c.124 others(45): Show c.1240+2671_1240+2696delATATATATATATATATATATATATAT	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUM1_chr1_30926506_31070717	30965323	AAGCCTGT others(19): Show AAGCCTGTTTTCTCAGTGGGTTCAATC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	334	0.0030	-26	c.208 others(43): Show c.2087-439_2087-414delGATTGAACCCACTGAGAAAACAGGCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	13/21			chr1	TogoVar
PUS3_chr11_125888485_125908206	125900706	ATGAGAGC others(19): Show ATGAGAGCTCAAAAGAAGGAACAAGCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	450	0.0022	-26	c.-47 others(43): Show c.-47+2438_-47+2463delGGCTTGTTCCTTCTTTTGAGCTCTCA	PUS3	ENSG00000110060.9	transcript	ENST00000227474.8	protein_coding	1/3			chr11	TogoVar
PUS7L_chr12_43713992_43763790	43718789	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0068 a0002c0002t0010g0068	1	306	0.0033	-26	c.11 others(39): Show c.11561_*11586delATATATATTTTTTTTTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		202		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718791	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02486.hp1 HG02630.hp2 others(4): Show HG01192.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03209.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0019 a0002c0002t0060 a0002c0002t0010 a0002c0002t0019 a0002c0002t0060	a0002c0002t0010g0021 a0002c0002t0010g0122 a0002c0002t0019g0042 others(3): Show a0002c0002t0010g0021 a0002c0002t0010g0122 a0002c0002t0019g0042 a0002c0002t0019g0043 a0002c0002t0019g0046 a0002c0002t0060g0228	7	306	0.0229	-26	c.11 others(39): Show c.11559_*11584delATATATATATTTTTTTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		200		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718793	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0053 a0002c0002t0019g0053	1	306	0.0033	-26	c.11 others(39): Show c.11557_*11582delATATATATATATTTTTTTTTTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		198		chr12	TogoVar
PVR_chr19_44638910_44671162	44667668	AAATATAT others(19): Show AAATATATATTATATATATAAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	412	0.0024	-26	c.58 others(37): Show c.5858_*5883delAATATATATTATATATATAAATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1507		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132403984	TGCTCCCG others(19): Show TGCTCCCGTAGGACGGCATTCTCCAGG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01106.hp2 others(9): Show HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01243.hp2 HG01496.hp2 HG02818.hp2 HG02970.hp1 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0006 a0003c0005 a0004c0006	a0003c0005t0001 a0004c0006t0001 a0003c0005t0001 a0004c0006t0001	a0003c0005t0001g0160 a0004c0006t0001g0006 a0004c0006t0001g0024 others(6): Show a0003c0005t0001g0160 a0004c0006t0001g0006 a0004c0006t0001g0024 a0004c0006t0001g0062 a0004c0006t0001g0065 a0004c0006t0001g0067 a0004c0006t0001g0073 a0004c0006t0001g0084 a0004c0006t0001g0094	12	374	0.0321	-26	c.126 others(41): Show c.126-636_126-611delCGTAGGACGGCATTCTCCAGGGCTCC	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132403992	TAGGACGG others(19): Show TAGGACGGCATTCTCCAGGGCTCCTGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp2 HG01106.hp1 others(22): Show HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG02056.hp2 HG02132.hp1 HG02683.hp1 HG02886.hp1 HG03098.hp2 HG03139.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG04228.hp2 NA18948.hp2 NA18956.hp1 NA18979.hp2 NA19083.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0012 a0001c0014 others(5): Show a0001c0001 a0001c0012 a0001c0014 a0001c0026 a0002c0002 a0003c0004 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0012t0001 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0012t0001 a0001c0014t0001 a0001c0026t0001 a0002c0002t0001 a0003c0004t0001 a0003c0005t0001 a0004c0006t0001	a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0070 others(19): Show a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0208 a0001c0001t0001g0228 a0001c0012t0001g0223 a0001c0014t0001g0179 a0001c0026t0001g0180 a0002c0002t0001g0192 a0003c0004t0001g0011 a0003c0005t0001g0006 a0004c0006t0001g0063 a0004c0006t0001g0064 a0004c0006t0001g0068 a0004c0006t0001g0071 a0004c0006t0001g0072 a0004c0006t0001g0166 a0004c0006t0001g0191	25	374	0.0668	-26	c.126 others(41): Show c.126-568_126-543delCCAGGGCTCCTGCAGGACGGCATTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
PXDNL_chr8_51314577_51814445	51577996	AAAGAGGA others(19): Show AAAGAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	122	0.0082	-26	c.308 others(45): Show c.308+14605_308+14630delCCTTCCTTCCTTCCTTCCTTCCTCTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51578000	AGGAAGGA others(19): Show AGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	122	0.0082	-26	c.308 others(45): Show c.308+14601_308+14626delCCTTCCTTCCTTCCTTCCTTCCTTCC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDN_chr2_1626887_1749515	1655282	GACACACC others(19): Show GACACACCACGCCACACATAACACATC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0005 a0003c0018t0005	a0003c0018t0005g0048 a0003c0018t0005g0048	1	322	0.0031	-26	c.183 others(43): Show c.1838-800_1838-775delGATGTGTTATGTGTGGCGTGGTGTGT	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	14/22			chr2	TogoVar

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